Science.gov

Sample records for normal karyotype support

  1. 47,XYY karyotype and normal SRY in a patient with a female phenotype.

    PubMed

    Benasayag, S; Rittler, M; Nieto, F; Torres de Aguirre, N; Reyes, M; Copelli, S

    2001-06-01

    A rare case of a female patient with a 47,XYY karyotype is described. She had normal female external genitalia, bilateral testes, rudimentary Fallopian tubes and no uterus. Molecular analysis revealed a normal SRY encoding sequence. The possible events in the etiology of this sex reversal entity are discussed.

  2. beta. amyloid gene duplication in Alzheimer's disease and karyotypically normal Down syndrome

    SciTech Connect

    Delabar, J.; Goldgaber, D.; Lamour, Y.; Nicole, A.; Huret, J.; De Groucy, J.; Brown, P.; Gajdusek, D.C.; Sinet, P.

    1987-03-13

    With the recently cloned complementary DNA probe, lambdaAm4 for the chromosome 21 gene encoding brain amyloid polypeptide (..beta.. amyloid protein) of Alzheimer's disease, leukocyte DNA from three patients with sporadic Alzheimer's disease and two patients with karyotypically normal Down syndrome was found to contain three copies of this bene. Because a small region of chromosome 21 containing the ets-2 gene is duplicated in patients with Alzheimer's disease, as well as in karyotypically normal Down syndrome, duplication of a subsection of the critical segment of chromosome 21 that is duplicated in Down syndrome may be the genetic defect in Alzeimer's disease.

  3. Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    PubMed Central

    Wallis, C E; Beighton, P H

    1989-01-01

    A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene. Images PMID:2732995

  4. {open_quotes}Balanced{close_quotes} karyotypes in six abnormal offspring of balanced reciprocal translocation normal carrier parents

    SciTech Connect

    Wenger, S.L.; Steele, M.W.; Boone, L.Y.

    1995-01-02

    Among 6800 consecutive blood samples studies for clinical cytogenetic diagnosis, we identified 30 families in which one parent of the proband had a balanced reciprocal autosomal translocation (excluding Robertsonian rearrangements). Twenty-eight of the 30 families had a malformed and/or mentally retarded proband: 19 with an unbalanced derived chromosome, 3 with abnormalities involving chromosomes other than those in the translocation, 5 with a {open_quotes}balanced{close_quotes} reciprocal translocation, and 1 with a normal karyotype. We hypothesize that a latter 6 affected probands with {open_quotes}balanced{close_quotes} karyotypes could be abnormal due to submicroscopic deletions and duplications as was originally suggested by Jacobs. Particularly in these 6 families, 83% of translocation breakpoints were associated with fragile sites, more than expected by chance (P < 0.025). This supports the report of an association between fragile sites and constitutional chromosome breakpoints by Hecht and Hecht. To explain these findings, we propose that autosomal fragile sites are unstable areas which predispose to breaks and unequal crossing over near the fragile site breakpoints creating minute duplications and deletions. Consequently, newborn infants inheriting a seemingly {open_quotes}balanced{close_quotes} karyotype from a normal parent with a balanced reciprocal translocation may still be at an increased risk of being malformed and/or developmentally delayed because of submicroscopic chromosomal imbalances. 19 refs., 6 figs., 2 tabs.

  5. Normal karyotype mosaicism in adult AML patients with adverse-risk and undefined karyotype: preliminary report of treatment outcomes after hematopoietic stem cell transplantation.

    PubMed

    Yoon, Jae-Ho; Kim, Hee-Je; Shin, Seung-Hwan; Yahng, Seung-Ah; Cho, Byung-Sik; Eom, Ki-Seong; Kim, Yoo-Jin; Lee, Seok; Min, Chang-Ki; Cho, Seok-Goo; Kim, Dong-Wook; Lee, Jong-Wook; Min, Woo-Sung; Park, Chong-Won

    2013-06-01

    Karyotype analysis in acute myeloid leukemia (AML) is one of the powerful prognostic factors for complete remission (CR), relapse, and overall survival (OS). Cytogenetic mosaicism is considered to be one of the important characteristics in expression of phenotypic manifestations. However, it has not come into focus due to emerging molecular biological approaches and the results of a number of mutation studies. Clinical correlates and prognostic relevance of mosaicism were evaluated in 163 AML patients [adverse-risk karyotypes (n = 72) and undefined karyotypes (n = 91)]. All patients were treated by induction and consolidation chemotherapies and finally went on hematopoietic stem cell transplantations (HSCT). Patients were divided into two subgroups, either with or without normal karyotype (NK) mosaicism. Seventy patients exhibited NK mosaicism and 93 did not. There were no significant differences in age, gender, chemotherapy cycles to achieve CR, HSCT donor type, source or intensity properties between the two subgroups. We found that NK mosaicism remaining in adverse-risk and undefined karyotype at diagnosis significantly correlates with better OS (p = 0.001) and lower CIR (p = 0.021) rate after HSCT. Our data show that the poor prognostic properties of unfavorable risk karyotype can be overcome to a great extent by allogeneic HSCT and chronic GVHD, especially in the subgroup with NK mosaicism. Cytogenetic mosaicism at initial diagnosis can be an influential factor for survival outcomes, even after HSCT.

  6. Human embryonic stem cells passaged using enzymatic methods retain a normal karyotype and express CD30.

    PubMed

    Thomson, Alison; Wojtacha, Davina; Hewitt, Zoë; Priddle, Helen; Sottile, Virginie; Di Domenico, Alex; Fletcher, Judy; Waterfall, Martin; Corrales, Néstor López; Ansell, Ray; McWhir, Jim

    2008-03-01

    Human embryonic stem cells (hESCs) are thought to be susceptible to chromosomal rearrangements as a consequence of single cell dissociation. Compared in this study are two methods of dissociation that do not generate single cell suspensions (collagenase and EDTA) with an enzymatic procedure using trypsin combined with the calcium-specific chelator EGTA (TEG), that does generate a single cell suspension, over 10 passages. Cells passaged by single cell dissociation using TEG retained a normal karyotype. However, cells passaged using EDTA, without trypsin, acquired an isochromosome p7 in three replicates of one experiment. In all of the TEG, collagenase and EDTA-treated cultures, cells retained consistent telomere length and potentiality, demonstrating that single cell dissociation can be used to maintain karyotypically and phenotypically normal hESCs. However, competitive genomic hybridization revealed that subkaryotypic deletions and amplifications could accumulate over time, reinforcing that present culture regimes remain suboptimal. In all cultures the cell surface marker CD30, reportedly expressed on embryonal carcinoma but not karyoptically normal ESCs, was expressed on hESCs with both normal and abnormal karyotype, but was upregulated on the latter.

  7. Wolf-Hirschhorn syndrome: a case with normal karyotype, demonstrated by array CGH (aCGH).

    PubMed

    Saberi, Alihossein; Shariati, Gholamreza; Hamid, Mohammad; Galehdari, Hamid; Abdorasouli, Nehzat

    2014-09-01

    Wolf-Hirschhorn syndrome (WHS) is a disorder that affects many parts of the body. The major features of this condition include specific craniofacial malformations, delayed growth and development, intellectual disability and seizures. Here, we report a case of WHS: a 27-month-old girl with a microdeletion at distal part of short arm of chromosome 4. She had striking clinical features of WHS and had an apparently normal karyotype. Array comparative genomic hybridization performed on the DNA extracted from peripheral blood revealed loss of 1.7 Mb at 4q16.3-q15.3. Taken together, this data suggests that a patient with strong clinical suspicion of chromosome abnormality and normal conventional karyotype analysis should be further evaluated by molecular cytogenetic techniques such as array comparative genomic hybridization (aCGH) or fluorescence in situ hybridization (FISH).

  8. Ameloblastic Fibroodontoma of the Mandible with Normal Karyotype in a Pediatric Patient

    PubMed Central

    Manor, Esther; Kan, Elena; Bodner, Lipa

    2012-01-01

    Background. Ameloblastic fibroodontoma (AFO) is a rare mixed odontogenic tumor with epithelial and mesenchymal components. AFO presents as a painless swelling in the mandible or maxilla. Radiographs show a well-defined radiolucent area containing various amounts of radiopaque material of irregular size and form. The common treatment is enucleation. It is not an aggressive tumor but recurrence and malignant transformation are possible. Methods. An AFO of the mandible of a 3-year-old female is reported. Panoramic radiograph and CT scan revealed a unilocular lesion with radiopaque center and radiolucent margins. Enucleation was performed with a good outcome. Results. Histopathology was a classic AFO. The karyotype was normal. No recurrence was noted at 12 months. Conclusions. As it is a benign tumor with low recurrence rate, conservative surgery is the treatment of choice. As malignant transformation to ameloblastic fibrosarcoma or ameloblastic odontosarcoma is possible despite the normal karyotype, long-term followup is recommended. PMID:22924135

  9. [Immunophenotypic and clinical characteristic analysis of NPM1 mutated acute myeloid leukemia with a normal karyotype].

    PubMed

    Liu, Yan-Rong; Lai, Yue-Yun; Chang, Yan; Ruan, Guo-Rui; Qin, Ya-Zhen; Wang, Ya-Zhe; Zhu, Hong-Hu; Shi, Hong-Xia; Jiang, Bin; Jiang, Hao; Jiang, Qian; Hao, Le; Li, Jin-Lan

    2013-12-01

    This study was purposed to compare the immunophenotypic and clinical characteristics of NPM1 mutated acute myeloid leukemia with a normal karyotype under the similar constituent ratio of FAB subtypes. Immunophenotyping and NPM1 gene mutation type-A,B and D and other leukemic related fusion genes were detected by multiparameter flow cytometry and real time RT-PCR or PCR, respectively. 77 AML patients with a normal karyotype (NK) and mutated NPM1 gene (NPM1m(+)AML) detected by immunophenotyping assay were included in this study. 55 cases without NPM1 mutation (NPM1m(-)AML) and with normal karyotype were served as negative control. The results showed that there was significant difference between NPM1m(+)AML and NPM1m(-)AML in terms of sex, white blood count, platelet counts, blast, WT1 expression level, FLT3-ITD mutation positive rate and response to treatment. The characteristic immunophenotype is lower expression of early differentiation-associated antigens (CD34, HLA-DR, CD117, CD38), lymphocytic antigens (CD7, CD4, CD19, CD2) and higher expression of CD33 and CD123 (P < 0.05). When above features was further analyzed between the M1/2 and M4/5 subgroups in NPM1m(+)AML patients, the M1/2 cases retained a higher frequency in women and a higher WT1 expression level (P < 0.05) . Monocytic differentiation-associated antigens including HLA-DR and lymphocytic antigens CD7 were higher expressed and CD117 was lower expressed in M4/5 subgroup (P < 0.05). It is concluded that under condition of similar constituent ratio of M1/2 and M4/5 subtype and normal karyotype, NPM1m(+)AML patients have higher WT1 expression level and better response to treatment. The major immunophenotype features of NPM1m(+)AML patients are lower expression of early differentiation antigens and lymphoid lineage antigens and higher expression of CD33 and CD123. Monocytic differentiation-associated antigens only higher are expressed in M4/5 cases when compared with M1/2 cases within NPM1m(+) AML patients.

  10. Successful management of discordant alobar holoprosencephaly in monochorionic diamniotic twins with normal karyotype: a case report.

    PubMed

    Zhang, J; Yang, T; Wang, X; Yu, H

    2015-01-01

    Holoprosencephaly (HPE), a complex brain malformation resulting from incomplete cleavage of the prosencephalon into distinct cerebral hemispheres, is rare in newborns. Two preterm male neonates were born at 34 weeks' and five days' gestation in the monochorionic diamniotic twin pregnancy complicated with pre-eclampsia and intrahepatic cholestasis of pregnancy, and one of them was prenatally diagnosed with alobar HPE by ultrasonography with frontal bossing, hydrocephaly, hypotelorism of eyes, flat nasal bridge, macroglossia, and cheilo/palatoschisis at birth. Karyotyping by G-banding of amniocentesis specimens in normal twin and fetal umbilical blood in both fetuses showed 46, XY. This report expands discordant alobar holoprosencephaly in monochorionic diamniotic twins.

  11. Whole genome and transcriptome analysis of a novel AML cell line with a normal karyotype.

    PubMed

    Gosse, Géraldine; Celton, Magalie; Lamontagne, Vikie; Forest, Audrey; Wilhelm, Brian T

    2015-07-01

    Acute myeloid leukemia (AML) occurs when hematopoietic progenitor cells acquire genetic defects blocking the regulation of normal growth and differentiation. Although recurrent translocations have been identified in AML, almost half of adult AML patients present with a normal karyotype (NK-AML). While cell line models exist to study AML, they frequently have abnormal/unstable karyotypes, while primary cells from NK-AML patients are difficult to maintain in vitro. Here we provide a thorough molecular characterization of a recently established cell line, CG-SH, which has normal cytogenetics, representing a useful new model for NK-AML. Using high-throughput DNA sequencing, we first defined the genetic background of this cell line. In addition to identifying potentially deleterious SNVs in genes relevant to AML, we also found insertions in both GATA2 and EZH2, two genes previously linked to AML. We further characterized the growth of this model system in vitro with a cytokine mix that promotes faster cell growth. We assessed gene expression changes after the addition of cytokines to the culture media and found differential expression in genes implicated in proliferation, apoptosis and differentiation. Our results provide a detailed molecular characterization of genetic defects in this cell line derived from an NK-AML patient.

  12. Whole exome sequencing identifies driver mutations in asymptomatic computed tomography-detected lung cancers with normal karyotype.

    PubMed

    Belloni, Elena; Veronesi, Giulia; Rotta, Luca; Volorio, Sara; Sardella, Domenico; Bernard, Loris; Pece, Salvatore; Di Fiore, Pier Paolo; Fumagalli, Caterina; Barberis, Massimo; Spaggiari, Lorenzo; Pelicci, Pier Giuseppe; Riva, Laura

    2015-04-01

    The efficacy of curative surgery for lung cancer could be largely improved by non-invasive screening programs, which can detect the disease at early stages. We previously showed that 18% of screening-identified lung cancers demonstrate a normal karyotype and, following high-density genome scanning, can be subdivided into samples with 1) numerous; 2) none; and 3) few copy number alterations. Whole exome sequencing was applied to the two normal karyotype, screening-detected lung cancers, constituting group 2, as well as normal controls. We identified mutations in both tumors, including KEAP1 (commonly mutated in lung cancers) in one, and TP53, PMS1, and MSH3 (well-characterized DNA-repair genes) in the other. The two normal karyotype screening-detected lung tumors displayed a typical lung cancer mutational profile that only next generation sequencing could reveal, which offered an additional contribution to the over-diagnosis bias concept hypothesized within lung cancer screening programs.

  13. Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.

    PubMed

    Fu, Fang; Deng, Qiong; Lei, Ting-Ying; Li, Ru; Jing, Xiang-Yi; Yang, Xin; Liao, Can

    2017-09-13

    The present study aims to evaluate the utility of high-resolution single-nucleotide polymorphism (SNP) arrays in fetuses with ventricular septal defects (VSDs) with or without other structural anomalies but with normal karyotypes and to investigate the outcomes of cases of prenatal VSDs via clinical follow-up. We analyzed 144 fetuses with VSDs and normal karyotypes using Affymetrix CytoScan HD arrays and the analyses were carried out a year after birth. Clinically significant CNVs were detected in 12 fetuses (8.3%). The most common pathogenic CNV was a 22q11.2 deletion with a detection rate of 2.8% (4/144). Well-known microdeletion or microduplication syndromes, including Smith-Magenis, Miller-Dieker, 9q subtelomeric deletion, 1p36 microdeletion, 1q21.1 microduplication, and terminal 4q deletion syndrome, were identified in six cases. Three regions of chromosomal imbalance were also identified: microduplication at 12q24.32q24.33, microdeletion at 16p13.13p13.12 and microdeletion at Xp21.1. The genes TBX1, SKI, GJA5, EHMT1, NOTCH1 were identified as established genes and LZTR1, PRDM26, YWHAE, FAT1, AKAP10, ERCC4, and ULK1 were identified as potential candidate genes of fetal VSDs. There was no significant difference in pathogenic CNVs between isolated VSDs and VSDs with additional structural abnormalities. Ninety-five (74.8%) pregnant women with fetuses with benign CNVs chose to continue the pregnancy and had a favorable prognosis, while nine (75%) pregnant women with fetuses with pathogenic CNVs chose to terminate the pregnancy. High-resolution SNP arrays are valuable tools for identifying submicroscopic chromosomal abnormalities in the prenatal diagnosis of VSDs. An excellent outcome can be expected for VSD fetuses that are negative for chromosomal anomalies and other severe anatomic abnormalities.

  14. Cytidine deaminase polymorphisms and worse treatment response in normal karyotype AML.

    PubMed

    Hyo Kim, Lyoung; Sub Cheong, Hyun; Koh, Youngil; Ahn, Kwang-Sung; Lee, Chansu; Kim, Hyung-Lae; Doo Shin, Hyoung; Yoon, Sung-Soo

    2015-12-01

    The cytidine deaminase (CDA) catalyzes the irreversible hydrolytic deamination of the cytarabine (AraC) into a 1-β-D-arabinofuranosyluracil (AraU), an inactive metabolite that plays a crucial role in lowering the amount of AraC, a key chemotherapeutic drug, in the treatment of patients with acute myeloid leukemia (AML). In this study, we hypothesized that CDA polymorphisms were associated with the AraC metabolism for AML treatment and/or related clinical phenotypes. We analyzed 16 polymorphisms of CDA among 50 normal karyotype AML (NK-AML) patients, 45 abnormal karyotype AML (AK-AML) patients and 241 normal controls (NC). Several polymorphisms and haplotypes, rs532545, rs2072671, rs471760, rs4655226, rs818194 and CDA-ht3, were found to have a strong correlation with NK-AML compared with NC and these polymorphisms also revealed strong linkage disequilibrium with each other. Among them, rs2072671 (79A>C), which is located in a coding region and the resultant amino acid change K27Q, showed significant associations with NK-AML compared with NC (P=0.009 and odds ratio=2.44 in the dominant model). The AC and CC genotypes of rs2072671 (79A>C) were significantly correlated with shorter overall survival rates (P=0.03, hazard ratio=1.84) and first complete remission duration (P=0.007, hazard ratio=3.24) compared with the AA genotype in the NK-AML patients. Our results indicate that rs2072671 in CDA may be an important prognostic marker in NK-AML patients.

  15. Adverse prognostic impact of abnormal lesions detected by genome-wide single nucleotide polymorphism array-based karyotyping analysis in acute myeloid leukemia with normal karyotype.

    PubMed

    Yi, Jun Ho; Huh, Jungwon; Kim, Hee-Jin; Kim, Sun-Hee; Kim, Hyeoung-Joon; Kim, Yeo-Kyeoung; Sohn, Sang Kyun; Moon, Joon Ho; Kim, Sung Hyun; Kim, Kyoung Ha; Won, Jong Ho; Mun, Yeung Chul; Kim, Hawk; Park, Jinny; Jung, Chul Won; Kim, Dong Hwan

    2011-12-10

    This study attempted to analyze the prognostic role of single nucleotide polymorphism array (SNP-A) -based karyotying in 133 patients with acute myeloid leukemia with normal karyotype (AML-NK), which presents with diverse clinical outcomes, thus requiring further stratification of patient subgroups according to their prognoses. A total of 133 patients with AML-NK confirmed by metaphase cytogenetics (MC) and fluorescent in situ hybridization analysis were included in this study. Analysis by Genome-Wide Human SNP 6.0 Array was performed by using DNAs derived from marrow samples at diagnosis. Forty-three patients (32.3%) had at least one abnormal SNP lesion that was not detected by MC. One hundred thirteen abnormal SNP lesions included 55 losses, 23 gains, and 35 copy-neutral losses of heterozygosity. Multivariate analyses showed that detection of abnormal SNP lesions by SNP-A karyotyping results in an unfavorable prognostic value for overall survival (hazard ratio [HR], 2.69; 95% CI, 1.50 to 4.82; P = .001); other significant prognostic factors included secondary AML (HR, 5.55; 95% CI, 1.80 to 17.14; P = .003), presence of the FLT3 mutation (HR, 3.17; 95% CI, 1.71 to 5.87; P < .001), and age (HR, 1.03; 95% CI, 1.01 to 1.05; P = .020). Our data demonstrated that abnormal SNP lesions detected by SNP-A karyotyping might indicate an adverse prognosis in patients with AML-NK, thus requiring a more sophisticated treatment strategy for improvement of treatment outcomes.

  16. Social Support in Normal Aging

    PubMed Central

    Matthews, Anne Martin

    1984-01-01

    The role of social support in helping elderly people deal with stressful life events is quite complex. This complexity exists because it is difficult to define exactly what social support is, and because the experiences of `normal' aging vary. This article uses the example of adaptation to widowhood to examine the relationship between normal aging and sources, types, and patterns of social support. These factors influence the extent to which support lessens the impact of age-related stressful events. The physician has a role in primary social support, and also in facilitating the supportive functions of family and others. PMID:21279087

  17. Digital karyotyping.

    PubMed

    Wang, Tian-Li; Maierhofer, Christine; Speicher, Michael R; Lengauer, Christoph; Vogelstein, Bert; Kinzler, Kenneth W; Velculescu, Victor E

    2002-12-10

    Alterations in the genetic content of a cell are the underlying cause of many human diseases, including cancers. We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of short sequence tags from specific genomic loci. Analysis of human cancer cells by using this method identified gross chromosomal changes as well as amplifications and deletions, including regions not previously known to be altered. Foreign DNA sequences not present in the normal human genome could also be readily identified. Digital karyotyping provides a broadly applicable means for systematic detection of DNA copy number changes on a genomic scale.

  18. Normal karyotype is a poor prognostic factor in myeloid leukemia of Down syndrome: a retrospective, international study.

    PubMed

    Blink, Marjolein; Zimmermann, Martin; von Neuhoff, Christine; Reinhardt, Dirk; de Haas, Valerie; Hasle, Henrik; O'Brien, Maureen M; Stark, Batia; Tandonnet, Julie; Pession, Andrea; Tousovska, Katerina; Cheuk, Daniel K L; Kudo, Kazuko; Taga, Takashi; Rubnitz, Jeffrey E; Haltrich, Iren; Balwierz, Walentyna; Pieters, Rob; Forestier, Erik; Johansson, Bertil; van den Heuvel-Eibrink, Marry M; Zwaan, C Michel

    2014-02-01

    Myeloid leukemia of Down syndrome has a better prognosis than sporadic pediatric acute myeloid leukemia. Most cases of myeloid leukemia of Down syndrome are characterized by additional cytogenetic changes besides the constitutional trisomy 21, but their potential prognostic impact is not known. We, therefore, conducted an international retrospective study of clinical characteristics, cytogenetics, treatment, and outcome of 451 children with myeloid leukemia of Down syndrome. All karyotypes were centrally reviewed before assigning patients to subgroups. The overall 7-year event-free survival for the entire cohort was 78% (± 2%), with the overall survival rate being 79% (± 2%), the cumulative incidence of relapse 12% (± 2%), and the cumulative incidence of toxic death 7% (± 1%). Outcome estimates showed large differences across the different cytogenetic subgroups. Based on the cumulative incidence of relapse, we could risk-stratify patients into two groups: cases with a normal karyotype (n=103) with a higher cumulative incidence of relapse (21%± 4%) than cases with an aberrant karyotype (n=255) with a cumulative incidence of relapse of 9% (± 2%) (P=0.004). Multivariate analyses revealed that white blood cell count ≥ 20 × 10(9)/L and age >3 years were independent predictors for poor event-free survival, while normal karyotype independently predicted inferior overall survival, event-free survival, and relapse-free survival. In conclusion, this study showed large differences in outcome within patients with myeloid leukemia of Down syndrome and identified novel prognostic groups that predicted clinical outcome and hence may be used for stratification in future treatment protocols.

  19. Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis.

    PubMed

    Borrell, Antoni; Grande, Maribel; Pauta, Montse; Rodriguez-Revenga, Laia; Figueras, Francesc

    2017-09-09

    To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR). This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included. Case reports were excluded. Risk differences were pooled to estimate the overall and stratified CMA incremental yield. Ten studies with full data available met the inclusion criteria for analysis. Combined data from these studies revealed a 4% (95% confidence interval [CI] 1-6%) incremental yield of CMA over karyotyping in nonmalformed growth-restricted fetuses, and a 10% (95% CI 6-14%) incremental yield in FGR when associated with fetal malformations. The most frequently found pathogenic CNVs were 22q11.2 duplication, Xp22.3 deletion, and 7q11.23 deletion (Williams-Beuren syndrome), particularly in isolated FGR. The use of genomic CMA provides a 4% incremental yield of detecting pathogenic CNVs in fetuses with isolated growth restriction and normal karyotype. © 2017 S. Karger AG, Basel.

  20. Evidence to Support Karyotypic Variation of the Mosquito, Anopheles peditaeniatus in Thailand

    PubMed Central

    Choochote, Wej

    2011-01-01

    Eight isoline colonies of Anopheles peditaeniatus Leicester (Diptera: Culicidae) were established from wild-caught females collected from buffalo-baited traps at 8 localities in Thailand. They showed 2 types of X (X2, X3) and 4 types of Y (Y2, Y3, Y4, Y5) chromosomes based on the number and amount of major block(s) of heterochromatin present in the heterochromatic arm, and were tentatively designated as Forms B (X2, X3, Y2), C (X3, Y3), D (X3, Y4) and E (X2, X3, Y5). Form B was found in Nan, Ratchaburi, and Chumphon provinces; Form C was obtained in Chon Buri province; Form D was recovered in Kamphaeng Phet province; and Form E was acquired in Chiang Mai, Udon Thani, and Ubon Ratchathani provinces. Crossing studies among the 8 isoline colonies, which were representative of 4 karyotypic forms of An. peditaeniatus, revealed genetic compatibility in providing viable progenies and synaptic salivary gland polytene chromosomes through F2-generations, thus suggesting the conspecific nature of these karyotypic forms. These results were supported by the very low intraspecific sequence variations (0.0 – 1.1%) of the nucleotide sequences in ribosomal DNA (ITS2) and mitochondrial DNA (COI and COII) of the 4 forms. PMID:21521137

  1. Evidence to support karyotypic variation of the mosquito, Anopheles peditaeniatus in Thailand.

    PubMed

    Choochote, Wej

    2011-01-01

    Eight isoline colonies of Anopheles peditaeniatus Leicester (Diptera: Culicidae) were established from wild-caught females collected from buffalo-baited traps at 8 localities in Thailand. They showed 2 types of X (X(2), X(3)) and 4 types of Y (Y(2), Y(3), Y(4), Y(5)) chromosomes based on the number and amount of major block(s) of heterochromatin present in the heterochromatic arm, and were tentatively designated as Forms B (X(2), X(3), Y(2)), C (X(3), Y(3)), D (X(3), Y(4)) and E (X(2), X(3), Y(5)). Form B was found in Nan, Ratchaburi, and Chumphon provinces; Form C was obtained in Chon Buri province; Form D was recovered in Kamphaeng Phet province; and Form E was acquired in Chiang Mai, Udon Thani, and Ubon Ratchathani provinces. Crossing studies among the 8 isoline colonies, which were representative of 4 karyotypic forms of An. peditaeniatus, revealed genetic compatibility in providing viable progenies and synaptic salivary gland polytene chromosomes through F(2)-generations, thus suggesting the conspecific nature of these karyotypic forms. These results were supported by the very low intraspecific sequence variations (0.0 - 1.1%) of the nucleotide sequences in ribosomal DNA (ITS2) and mitochondrial DNA (COI and COII) of the 4 forms.

  2. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis.

    PubMed

    Grande, M; Jansen, F A R; Blumenfeld, Y J; Fisher, A; Odibo, A O; Haak, M C; Borrell, A

    2015-12-01

    To estimate the incremental yield of detecting copy number variants (CNVs) by genomic microarray over karyotyping in fetuses with increased nuchal translucency (NT) diagnosed by first-trimester ultrasound. This was a systematic review conducted in accordance with PRISMA criteria. We searched PubMed, Ovid MEDLINE and Web of Science for studies published between January 2009 and January 2015 that described CNVs in fetuses with increased NT, usually defined as ≥  3.5 mm, and normal karyotype. Search terms included: fetal or prenatal, nuchal translucency or cystic hygroma or ultrasound anomaly, array comparative genomic hybridization or copy number variants, with related search terms. Risk differences were pooled to estimate the overall and stratified microarray incremental yield using RevMan. Quality assessment of included studies was performed using the Quality Assessment tool for Diagnostic Accuracy Studies (QUADAS-2) checklist. Seventeen studies met the inclusion criteria for analysis. Meta-analysis indicated an incremental yield of 5.0% (95% CI, 2.0-8.0%) for the detection of CNVs using microarray when pooling results. Stratified analysis of microarray results demonstrated a 4.0% (95% CI, 2.0-7.0%) incremental yield in cases of isolated NT and 7.0% (95% CI, 2.0-12.0%) when other malformations were present. The most common pathogenic CNVs reported were 22q11.2 deletion, 22q11.2 duplication, 10q26.12q26.3 deletion and 12q21q22 deletion. The pooled prevalence for variants of uncertain significance was 1%. The use of genomic microarray provides a 5.0% incremental yield of detecting CNVs in fetuses with increased NT and normal karyotype. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  3. Digital karyotyping

    PubMed Central

    Wang, Tian-Li; Maierhofer, Christine; Speicher, Michael R.; Lengauer, Christoph; Vogelstein, Bert; Kinzler, Kenneth W.; Velculescu, Victor E.

    2002-01-01

    Alterations in the genetic content of a cell are the underlying cause of many human diseases, including cancers. We have developed a method, called digital karyotyping, that provides quantitative analysis of DNA copy number at high resolution. This approach involves the isolation and enumeration of short sequence tags from specific genomic loci. Analysis of human cancer cells by using this method identified gross chromosomal changes as well as amplifications and deletions, including regions not previously known to be altered. Foreign DNA sequences not present in the normal human genome could also be readily identified. Digital karyotyping provides a broadly applicable means for systematic detection of DNA copy number changes on a genomic scale. PMID:12461184

  4. Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

    PubMed Central

    Pratte-Santos, Rodrigo; Ribeiro, Katyanne Heringer; Santos, Thainá Altoe; Cintra, Terezinha Sarquis

    2016-01-01

    ABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment. PMID:27074231

  5. Increased nuchal translucency with normal karyotype and anomaly scan: what next?

    PubMed

    Bakker, Merel; Pajkrt, Eva; Bilardo, Caterina M

    2014-04-01

    Over the years, it has become clear that increased nuchal translucency is a marker for chromosomal abnormalities, and it is also associated with a wide spectrum of structural anomalies, genetic syndromes, a higher risk of miscarriage, and intrauterine fetal death. These risks are all proportionally related to the degree of nuchal translucency enlargement. After the initial assessment of increased nuchal translucency, parents should be counselled by the fetal medicine specialist about the possible outcomes and the value of additional karyotyping and array comparative genomic hybridisation. A detailed late first-trimester and subsequent 20-week scan should aim at identifying structural anomalies, with special focus on the fetal heart and subtle dysmorphic features. In the absence of structural anomalies or markers, the chance of a favourable outcome is high. Copyright © 2013 Elsevier Ltd. All rights reserved.

  6. Acute promyelocytic leukemia with apparently normal karyotype: molecular findings and response to all-trans retinoic acid.

    PubMed

    Kohno, A; Tsuzuki, S; Kasai, M; Miyamura, K; Emi, N; Tanimoto, M; Saito, H

    2001-06-01

    Acute promyelocytic leukemia (APL) is specifically associated with a reciprocal translocation, t(15; 17)(q22; q21), leading to the formation of a fusion of the retinoic acid receptor-alpha (RARA) gene and the promyelocytic leukemia (PML) gene. However, there are several reports describing APL cases lacking the t(15; 17). Many such cases are those bearing variant translocations involving chromosomes 15 or 17, and those with no chromosomal aberrations have rarely been reported. We have studied a patient with APL showing an apparently normal karyotype which was confirmed by spectral karyotyping (SKY). A submicroscopic PML-RARA fusion was identified by reverse transcriptase-polymerase chain reaction (RT-PCR) and fluorescent in situ hybridization (FISH). All-trans retinoic acid (ATRA) was effective as the initial therapy for remission induction and as the reinduction therapy after a relapse. The present study shows the key role of the fusion of PML-RARA in the responsiveness to ATRA as well as in the leukemogenesis of APL.

  7. DOCK4 deletion at 7q31.1 in a de novo acute myeloid leukemia with a normal karyotype.

    PubMed

    Kjeldsen, Eigil; Veigaard, Christopher

    2013-10-01

    Acute myeloid leukemia with a normal karyotype (NK-AML) has been assigned to an intermediate prognostic risk group. However, there is a marked variability in outcome within this group of AML, suggesting a significant biological and molecular heterogeneity. Chromosomal abnormalities may be cryptic by metaphase cytogenetics, but still have an impact on the process of leukemogenesis and/or the clinical outcome of NK-AML. Therefore, we analyzed the genomic complement of NK-AML cases to search for the presence of submicroscopic genomic imbalances. We applied high-resolution oligo-based aCGH analysis to a cohort of AML patients with a normal karyotype, and FISH to validate the aCGH findings. Relative gene expression levels were examined by qPCR. High-resolution aCGH analysis of 21 NK-AML patients revealed one patient with a rare submicroscopic deletion at 7q31.1. This female patient exhibited a rapid disease progression and a dismal outcome. The deletion was mono-allelic, approximately 189,1 kb in size, and encompassed the major 3' part of the DOCK4 gene. The expression level of the DOCK4 gene in her leukemic cells was decreased when compared to CD34+ cells from healthy controls. When compared to AML patients with -7/del(7q) as the sole chromosomal anomaly, the DOCK4 expression level was found to be similarly low. This is the first report of an acquired partial deletion of the DOCK4 gene in a patient with de novo NK-AML. DOCK4 is a strong tumor suppressor candidate, required for GTPase activation in signal transduction pathways controlling cellular proliferation, adhesion, migration and phagocytosis. Our findings may be relevant for understanding of the process of leukemogenesis and the response to therapy in a subset of NK-AML patients.

  8. Prognostic impact of Wilms tumor gene mutations in Egyptian patients with acute myeloid leukemia with normal karyotype.

    PubMed

    Zidan, Magda Abdel Aziz; Kamal Shaaban, Howyda M; Elghannam, Doaa M

    2014-07-01

    The Wilms' tumor (WT1) gene mutations were detected in patients with most forms of acute leukemia. However, the biological significance and the prognostic impact of WT1 mutation in Egyptian patients with acute myeloid leukemia with normal karyotype (AML-NK) are still uncertain. We aimed to evaluate the incidence and clinical relevance of WT1 gene mutations in acute myeloid leukemia with normal karyotype (AML-NK). Exons 7 and 9 of WT1 were screened in samples from 216 adult NK-AML using polymerase chain reaction single-strand conformation polymorphism techniques. Twenty-three patients (10.6%) harbored WT1 mutations. Younger ages and higher marrow blasts were significantly associated with WT1 mutations (P = 0.006 and 0.003 respectively). Complete remission rates were significantly lower in patients with WT1 mutations than those with WT1 wild-type (P = 0.015). Resistance, relapse, and mortality rates were significantly higher in patients with WT1 mutations than those without (P = 0.041, 0.016, and 0.008 respectively). WT1 mutations were inversely associated with NPM1 mutations (P = 0.007). Patients with WT1 mutations had worse disease-free survival (P < 0.001) and overall survival (P < 0.001) than patients with WT1 wild-type. In multivariable analyses, WT1 mutations independently predicted worse DFS (P < 0.001; hazard ratio [HR] 0.036) and overall survival (P = 0.001; HR = 0.376) when controlling for age, total leukocytic count (TLC), and NPM1 mutational status. In conclusion, WT1 mutations are a negative prognostic indicator in intensively treated patients with AML-NK, may be a part of molecularly based risk assessment and risk-adapted treatment stratification of patients with AML-NK.

  9. Interstitial loss and gain of sequences on chromosome 22 in meningiomas with normal karyotype.

    PubMed

    Prowald, Alexandra; Wemmert, Silke; Biehl, Claudia; Storck, Simone; Martin, Thomas; Henn, Wolfram; Ketter, Ralf; Meese, Eckart; Zang, Klaus D; Steudel, Wolf-Ingo; Urbschat, Steffi

    2005-02-01

    In nearly half of sporadic low grade meningiomas no chromosome aberration can be detected. In the majority of the other half chromosome 22 is lost. In higher grade meningiomas this loss is followed by characteristic secondary chromosome aberrations. Regarding the molecular findings in Schwannomas, homozygous loss or mutation of the NF2 gene located on chromosome 22, was supposed also to be the primary event in meningioma development. However, in nearly all high grade but in only a minority of low grade meningiomas the loss of the NF2 protein is observed. Therefore, both the hypothetical combined heterozygous loss of or inactivation of two or more tumour suppressor genes (at least one of them located on chromosome 22) or the homozygous loss of a regulatory gene on chromosome 22 different from NF2 was discussed. In search for microdeletions or/and structural recombinations of chromosome 22 we investigated primary cell cultures of 43 meningiomas by conventional G-banding (26 without, 17 with loss of chromosome 22). Twenty-seven tumours were analysed with spectral karyotyping (SKY) and 16 with fluorescence in situ hybridisation (FISH) with DNA probes for the chromosomal regions of 22q11.2, 22q11.23q12.1, 22q12.1 and 22q13.3. SKY analysis confirmed G-banding data for chromosome 22 and could specify marker chromosomes and translocations containing material from chromosome(s) 22. Confirming our assumption microdeletions on chromosome 22 were detected by FISH in 6/8 cytogenetically non-aberrant meningiomas. Surprisingly, in 2/8 cases we observed gains of the 22q13.3 and in 2/8 gains of the 22q12.1 region. Here we present first evidence for an uncommon mechanism during early meningioma development at least for a meningioma subgroup: i) duplication and translocation of sequences from chromosome 22 to different chromosomes. ii) deletion of the original sequences on chromosome 22, resulting in disomy again (only visible as translocation in metaphase FISH). iii) loss of

  10. Independent confirmation of a prognostic gene-expression signature in adult acute myeloid leukemia with a normal karyotype: a Cancer and Leukemia Group B study

    PubMed Central

    Radmacher, Michael D.; Marcucci, Guido; Ruppert, Amy S.; Mrózek, Krzysztof; Whitman, Susan P.; Vardiman, James W.; Paschka, Peter; Vukosavljevic, Tamara; Baldus, Claudia D.; Kolitz, Jonathan E.; Caligiuri, Michael A.; Larson, Richard A.; Bloomfield, Clara D.

    2006-01-01

    Patients with acute myeloid leukemia (AML) and normal karyotype are classified in an intermediate-risk group, albeit this subset is heterogeneous for clinical outcome. A recent complementary DNA microarray study identified a gene-expression signature that—when used to cluster normal karyotype patients—separated them into 2 prognostically relevant subgroups. We sought the first independent validation of the prognostic value of this signature. Using oligonucleotide microarrays to measure gene expression in samples from uniformly treated adults with karyotypically normal AML, we performed cluster analysis based on the previously identified signature. We also developed a well-defined classification rule using the signature to predict outcome for individual patients. Cluster analysis confirmed the prognostic utility of the signature: patient clusters differed in overall (P = .001) and disease-free (P = .001) survival. The signature-based classifier identified groups with differences in overall (P = .02) and disease-free (P = .05) survival. A strong association of the outcome classifier with the prognostically adverse FLT3 internal tandem duplication (FLT3 ITD) potentially explained the prognostic significance of the signature. However, in the subgroup of patients without FLT3 ITD there was a moderate difference in survival for the classifier-derived groups. Our analysis confirms the applicability of the gene-expression profiling strategy for outcome prediction in cytogenetically normal AML. PMID:16670265

  11. Incidence and Prognostic Impact of DNMT3A Mutations in Korean Normal Karyotype Acute Myeloid Leukemia Patients

    PubMed Central

    Park, Sang Hyuk; Choi, Jae-Cheol; Kim, Shine Young; Yi, Jongyoun; Oh, Seung Hwan; Kim, In-Suk; Kim, Hyung-Hoi; Chang, Chulhun Ludgerus; Lee, Eun Yup; Song, Moo-Kon; Shin, Ho-Jin; Chung, Joo Seop

    2015-01-01

    Background. DNA methyltransferase 3A (DNMT3A) mutation was recently introduced as a prognostic indicator in normal karyotype (NK) AML and we evaluated the incidence and prognostic impact of DNMT3A mutations in Korean NK AML patients. Methods. Total 67 NK AML patients diagnosed during the recent 10 years were enrolled. DNMT3A mutations were analyzed by direct sequencing and categorized into nonsynonymous variations (NSV), deleterious mutations (DM), and R882 mutation based on in silico analysis results. Clinical features and prognosis were compared with respect to DNMT3A mutation status. Results. Three novel (I158M, K219V, and E177V) and two known (R736H and R882H) NSVs were identified and the latter three were predicted as DMs. DNMT3A NSVs, DMs, and R882 mutation were identified in 14.9%–17.9%, 10.3%–10.4%, and 7.5% of patients, respectively. DNMT3A mutations were frequently detected in FLT3 ITD mutated patients (P = 0.054, 0.071, and 0.071 in NSV, DMs, and R882 mutation, resp.) but did not affect clinical features and prognosis significantly. Conclusions. Incidences of DNMT3A NSVs, DMs, and R882 mutation are 14.9%–17.9%, 10.3%–10.4%, and 7.5%, respectively, in Korean NK AML patients. DNMT3A mutations are associated with FLT3 ITD mutations but do not affect clinical outcome significantly in Korean NK AML patients. PMID:25650308

  12. Spectrum of Cytogenomic Abnormalities Revealed by Array Comparative Genomic Hybridization on Products of Conception Culture Failure and Normal Karyotype Samples.

    PubMed

    Zhou, Qinghua; Wu, Shen-Yin; Amato, Katherine; DiAdamo, Autumn; Li, Peining

    2016-03-20

    Approximately 30% of pregnancies after implantation end up in spontaneous abortions, and 50% of them are caused by chromosomal abnormalities. However, the spectrum of genomic copy number variants (CNVs) in products of conception (POC) and the underlying gene-dosage-sensitive mechanisms causing spontaneous abortions remain largely unknown. In this study, array comparative genomic hybridization (aCGH) analysis was performed as a salvage procedure for 128 POC culture failure (POC-CF) samples and as a supplemental procedure for 106 POC normal karyotype (POC-NK) samples. Chromosomal abnormalities were detected in 10% of POC-CF and pathogenic CNVs were detected in 3.9% of POC-CF and 5.7% of POC-NK samples. Compiled results from this study and relevant case series through a literature review demonstrated an abnormality detection rate (ADR) of 35% for chromosomal abnormalities in POC-CF samples, 3.7% for pathogenic CNVs in POC-CF samples, and 4.6% for pathogenic CNVs in POC-NK samples. Ingenuity Pathway Analysis (IPA) was performed on the genes from pathogenic CNVs found in POC samples. The denoted primary gene networks suggested that apoptosis and cell proliferation pathways are involved in miscarriage. In summary, a similar spectrum of cytogenomic abnormalities was observed in POC culture success and POC-CF samples. A threshold effect correlating the number of dosage-sensitive genes in a chromosome with the observed frequency of autosomal trisomy is proposed. A rationalized approach using firstly fluorescence in situ hybridization (FISH) testing with probes of chromosomes X/Y/18, 13/21, and 15/16/22 for common aneuploidies and polyploidies and secondly aCGH for other cytogenomic abnormalities is recommended for POC-CF samples.

  13. Array-based DNA methylation analysis in individuals with developmental delay/intellectual disability and normal molecular karyotype.

    PubMed

    Kolarova, Julia; Tangen, Imke; Bens, Susanne; Gillessen-Kaesbach, Gabriele; Gutwein, Jana; Kautza, Monika; Rydzanicz, Malgorzata; Stephani, Ulrich; Siebert, Reiner; Ammerpohl, Ole; Caliebe, Almuth

    2015-08-01

    Despite recent progress in molecular karyotyping and clinical sequencing the cause of intellectual disability in a considerable subset of individuals affected by this phenotype remains elusive. As intellectual disability is also a feature of various imprinting disorders and some monogenic forms of intellectual disability are caused by epigenetic modifiers we hypothesized that changes in DNA methylation might be associated with or even causative in some cases of intellectual disability. Therefore, we performed a DNA methylation analysis of peripheral blood samples from 82 patients with intellectual disability and additional features using the HumanMethylation450 BeadChip. The findings were compared to that of 19 normal controls. Differentially methylated loci were validated by bisulfite pyrosequencing. On a global level, we failed to detect a robust DNA methylation signature segregating individuals with intellectual disability from controls. Using an individual approach, we identified 157 regions showing individual DNA methylation changes in at least one patient. These correlated to 107 genes including genes linked to conditions associated with intellectual disability, namely COLEC11, SHANK2, GLI2 and KCNQ2, as well as imprinted genes like FAM50B and MEG3. The latter was suggestive of an undiagnosed Temple syndrome which could be confirmed by diagnostic tests. Subsequent in-depth analysis of imprinted loci revealed DNA methylation changes at additional imprinted loci, i.e. PPIEL, IGF2R, MEG8 and MCTS2/HM13, in up to five patients. Our findings indicate that imprinting disorders are rare but probably under-diagnosed in patients with intellectual disability and moreover point to DNA methylation changes as potential alternative means to identify deregulated genes involved in the pathogenesis of intellectual disability.

  14. The Wilms Tumor-1 (WT1) rs2234593 variant is a prognostic factor in normal karyotype acute myeloid leukemia.

    PubMed

    Niavarani, Ahmadreza; Horswell, Stuart; Sadri, Ramin; Bonnet, Dominique

    2016-01-01

    The single-nucleotide polymorphism (SNP) within Wilms tumor-1 (WT1) exon 7, rs16754, has been arguably reported to be implicated in acute myeloid leukemia (AML) prognosis. We assessed the potential association of selected WT1 SNPs as well as WT1 mutations in normal karyotype (NK)-AML and evaluated the prognostic value of these normal gene variants. Diagnostic samples from a series of 474 young adult NK-AML patients were used to genotype five WT1 SNPs using TaqMan assays and to directly sequence WT1 exons 7 and 9. Analysis of five WT1 gene variants showed an association of rs2234593 allele C with WT1 Ex7 mutation. Prognostic study of the same variants identified rs2234593 significantly associated with relapse and overall survival (OS). Patients with rs2234593AA/AC showed significantly higher 10-year OS (50 vs 36 %, hazard ratio (HR) = 0.69 (0.52–0.90), p = 0.006) and lower cumulative incidence of relapse (CIR) (36 vs 51 %, HR = 0.62 (0.45–0.86), p = 0.004) compared to those with rs2234593CC. The effect of AA genotype on CIR remained significant after adjustment for basic covariates including FLT3 internal-tandem duplication (FLT3-ITD) and nucleophosmin 1 (NPM1) mutations (HR = 0.60 (0.41–0.89), p = 0.009), with some evidence of improved survival (HR = 0.75 (0.55–1.03), p = 0.07). A multivariate analysis showed WT1 Ex7-mutant as the major relapse predictor, with a tendency for rs2234593-A effect after allowing for Ex7 mutation (p = 0.07). No adjusted risk benefit was found for previously reported rs16754-G. In conclusion, WT1 normal gene variant rs2234593 is associated with mutational status of WT1 Ex7 and is a further prognostic marker independent from FLT3-ITD and NPM1 mutations in NK-AML.

  15. Prenatal diagnosis of sub-microscopic partial trisomy 10q using chromosomal microarray analysis in a phenotypically abnormal fetus with normal karyotype.

    PubMed

    Browne, P C; Adam, S; Badr, M; Brooks, C R; Edwards, J; Walker, P; Mohamed, S; Gregg, A R

    2016-05-17

    Partial trisomy of the 10q region was originally reported in 1979 [1]. For 25 years, the diagnosis was made microscopically based on large, visible insertions in the region identified by karyotype analysis. Previous case reports have included both unbalanced translocations and large duplications/insertions in the 10q region [2]. Probands with partial trisomy 10q syndrome often have an abnormal phenotype that may include developmental delay [3-5], craniofacial abnormalities [3, 5], talipes (clubfoot) [2], microcephaly [2-4], or congenital heart disease [2-6]. Prenatal diagnoses by karyotype have been made following ultrasound diagnosis of sacrococcygeal teratoma [7], renal pyelectasis [3, 8-10], and other fetal abnormalities [4]. In this case, we report the first prenatal diagnosis of partial trisomy 10q (10q22.3-10q23.2) with a normal karyotype and an abnormal chromosomal microarray analysis (CMA). This is the smallest copy number variant (CNV) (7.5 Mb) in the 10q22.3-10q23.2 regions yet reported.

  16. Ultrasound and echocardiographic findings obtained in the second and third trimesters of gestation in fetuses with normal karyotype and increased nuchal translucency

    PubMed Central

    Janiak, Katarzyna; Słodki, Maciej; Respondek-Liberska, Maria

    2013-01-01

    Introduction Numerous papers have proven that an increased nuchal translucency is connected with a raised risk of chromosomal aberrations, but few analyses are related to the further state of fetuses with a normal karyotype. The aim of the study The aim of the study was to estimate the risk of cardiac defects and other developmental disorders in fetuses with increased nuchal translucency and normal findings of a standard cytogenetic examination. Methods The authors carried out a retrospective analysis of 5183 examinations of 3376 patients who reported to the Department of Diagnosis and Prophylaxis of Congenital Malformations in the Polish Mother's Memorial Hospital in Łódź in the period from January 2008 to March 2011 for prenatal ultrasound and echocardiographic examinations. The authors analyzed the results of the examinations performed in the second and third trimesters of gestation in fetuses with an increased nuchal translucency of ≥3 mm in the first trimester and with a normal karyotype. Results Fifty-seven patients (1.7% of the examined group) fulfilled the criteria necessary to be included in the study. In 31 pregnant women (54%) structural defects or anomalies of the fetus were found. Cardiac anomalies were detected in 17 fetuses (29.8%). The authors detected various types of cardiac defects such as tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, transposition of the great arteries and hypoplastic left heart syndrome. Conclusions In more than half of the fetuses with an increased nuchal translucency (NT ≥ 3 mm) and a normal karyotype, developmental defects of various organs appeared in the further course of pregnancy: mainly heart defects that were either isolated, or accompanied other anomalies. PMID:26673632

  17. Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype.

    PubMed

    Gouas, Laetitia; Kémény, Stéphan; Beaufrère, Anne-Marie; Eymard-Pierre, Eléonore; Pebrel-Richard, Céline; Tchirkov, Andrei; Lemery, Didier; Laurichesse-Delmas, Hélène; Vago, Philippe; Goumy, Carole

    2015-01-01

    Fetuses with increased nuchal translucency thickness (NT) are at increased risk for chromosomal abnormalities. In case of a normal karyotype, a minority of them may present with structural abnormalities or genetic syndromes, which may be related to submicroscopic chromosomal imbalances. The objective of this study was to evaluate whether MLPA screening of 21 syndromic and subtelomeric regions could improve the detection rate of small chromosomal aberrations in fetuses with increased NT and a normal karyotype. A total of 106 prenatal samples from fetuses with NT ≥ 99th centile and normal R- and G-banding were analyzed by MLPA for subtelomeric imbalances (SALSA P036 and P070) and 21 syndromic regions (SALSA P245). One sample showed a benign CNV (dup(8)pter, FBXO25 gene), and 1 patient was found to have a loss of 18 qter and a gain of 5 pter as a result of an unbalanced translocation. The incidence of cryptic pathogenic variants was <1% or 2.7% when only fetuses with other ultrasound abnormalities were taken into account. Submicroscopic imbalances in fetuses with increased NT may be individually rare, and genome-wide screening seems more likely to improve the diagnostic yield in these fetuses.

  18. Intrachromosomal karyotype asymmetry in Orchidaceae

    PubMed Central

    Medeiros-Neto, Enoque; Nollet, Felipe; Moraes, Ana Paula; Felix, Leonardo P.

    2017-01-01

    Abstract The asymmetry indexes have helped cytotaxonomists to interpret and classify plant karyotypes for species delimitation efforts. However, there is no consensus about the best method to calculate the intrachromosomal asymmetry. The present study aimed to compare different intrachromosomal asymmetry indexes in order to indicate which are more efficient for the estimation of asymmetry in different groups of orchids. Besides, we aimed to compare our results with the Orchidaceae phylogenetic proposal to test the hypothesis of Stebbins (1971). Through a literature review, karyotypes were selected and analyzed comparatively with ideal karyotypes in a cluster analysis. All karyotypes showed some level of interchromosomal asymmetry, ranging from slightly asymmetric to moderately asymmetric. The five tested intrachromosomal asymmetry indexes indicated Sarcoglottis grandiflora as the species with the most symmetrical karyotype and Christensonella pachyphylla with the most asymmetrical karyotype. In the cluster analysis, the largest number of species were grouped with the intermediary ideal karyotypes B or C. Considering our results, we recommend the combined use of at least two indexes, especially Ask% or A1 with Syi, for cytotaxonomic analysis in groups of orchids. In an evolutionary perspective, our results support Stebbins’ hypothesis that asymmetric karyotypes derive from a symmetric karyotypes. PMID:28644507

  19. Intrachromosomal karyotype asymmetry in Orchidaceae.

    PubMed

    Medeiros-Neto, Enoque; Nollet, Felipe; Moraes, Ana Paula; Felix, Leonardo P

    2017-01-01

    The asymmetry indexes have helped cytotaxonomists to interpret and classify plant karyotypes for species delimitation efforts. However, there is no consensus about the best method to calculate the intrachromosomal asymmetry. The present study aimed to compare different intrachromosomal asymmetry indexes in order to indicate which are more efficient for the estimation of asymmetry in different groups of orchids. Besides, we aimed to compare our results with the Orchidaceae phylogenetic proposal to test the hypothesis of Stebbins (1971). Through a literature review, karyotypes were selected and analyzed comparatively with ideal karyotypes in a cluster analysis. All karyotypes showed some level of interchromosomal asymmetry, ranging from slightly asymmetric to moderately asymmetric. The five tested intrachromosomal asymmetry indexes indicated Sarcoglottis grandiflora as the species with the most symmetrical karyotype and Christensonella pachyphylla with the most asymmetrical karyotype. In the cluster analysis, the largest number of species were grouped with the intermediary ideal karyotypes B or C. Considering our results, we recommend the combined use of at least two indexes, especially Ask% or A1 with Syi, for cytotaxonomic analysis in groups of orchids. In an evolutionary perspective, our results support Stebbins' hypothesis that asymmetric karyotypes derive from a symmetric karyotypes.

  20. Array-based comparative genomic hybridization detects copy number variations with prognostic relevance in 80% of ALL with normal karyotype or failed chromosome analysis.

    PubMed

    Mühlbacher, V; Haferlach, T; Kern, W; Zenger, M; Schnittger, S; Haferlach, C

    2016-02-01

    Pretreatment cytogenetics is an important parameter for risk stratification and therapy approach in acute lymphoblastic leukemia (ALL). However, in up to 30% of cases, chromosome banding analysis (CBA) fails or reveals a normal karyotype. To characterize the subset of ALL with normal karyotype or failed CBA, we performed fluorescence in situ hybridization (FISH) or PCR for BCR-ABL1 and MLL rearrangements as well as array comparative genomic hybridization (aCGH) in 186 adult patients. We further carried out FISH for MYC in cases with Burkitt leukemia phenotype. FISH or PCR revealed one of the respective rearrangements in 22% of patients. In 80% of cases, copy number variations (CNV) were identified by aCGH. In 22% of cases, all CNV were below the resolution of CBA. On the basis of results of FISH, RT-PCR and aCGH, patients were categorized into three groups. The novel subset of patients with submicroscopic CNV only showed an overall survival at 3 years of 84% compared with 64% for patients classified as adverse abnormalities and 77% for cases with other aberrations (P=0.046). Thus, ALL with non-informative CBA can be further classified by FISH and aCGH providing prognostic information, which may be useful for a more individualized therapy.

  1. Biclonal low grade B-cell lymphoma confirmed by both flow cytometry and karyotypic analysis, in spite of a normal kappa/lambda Ig light chain ratio.

    PubMed

    Delville, J P; Heimann, P; El Housni, H; Boutriaux, M; Jeronnez, A; Remmelink, M; Lasudry, J; Pradier, O; Kentos, A

    2007-06-01

    Composite low grade lymphoma with two subpopulations in a same site is uncommon. We herewith report the case of an 80-year-old woman who presented with isolated bilateral dacryoadenomegaly. Pathological examination of an incisional biopsy of her right lacrimal gland was consistent with a marginal zone lymphoma. Flow cytometry immunophenotyping showed two distinct clonal B-cell populations expressing sIg D lambda or sIg M kappa restriction in the lacrimal gland, blood, and bone marrow. Both B-cells populations were sorted from peripheral blood for molecular biology investigations and comparison with molecular data performed on tumor and bone marrow cells. IgH PCR performed on purified blood populations disclosed two monoclonal peaks: 98 bp-sized peak in the sIg M kappa and a 107 bp in the sIg D lambda clones, respectively. The lacrimal gland tumor expressed mainly sIg M kappa population, and showed a major 98 bp-sized peak coexisting with a very minor 107 bp peak. Cytogenetic studies showed a 46, XX,del (7) (q22q32) karyotype. Bone marrow examination at diagnosis revealed the same B-cell clones distribution than the one observed in blood with a dominant sIg D lambda population, a Genescan profile showing a major peak of 107 bp and a minor peak of 98 bp. Chromosomal analysis disclosed a 46,XX,del (10) (?p14) karyotype without detectable 7q deletion. To our knowledge, this observation represents the first reported case of biclonal low grade lymphoma hidden behind a normal classical kappa/lambda Ig light chain ratio in blood, but clearly demonstrated by the combination of three ancillary techniques (flow cytometry both analytical and cell sorting, molecular biology, and cytogenetics) and analysis of different tissues (i.e., in this case, lacrimal gland biopsy, blood, and bone marrow).

  2. Pre-transplant Quantitative Determination of NPM1 Mutation Significantly Predicts Outcome of AIlogeneic Hematopoietic Stem Cell Transplantation in Patients with Normal Karyotype AML in Complete Remission.

    PubMed

    Karas, Michal; Steinerova, Katerina; Lysak, Daniel; Hrabetova, Marcela; Jungova, Alexandra; Sramek, Jiri; Jindra, Pavel; Polivka, Jiri; Holubec, Lubos

    2016-10-01

    Minimal residual disease (MRD) in patients with acute myeloid leukemia (AML) before allogeneic hematopoietic stem cell transplantation (alloHSCT) can influence the results of therapy. With the aim of evaluating the potential role of pre-transplant MRD, we studied the impact of pre-transplant MRD level on the outcome of alloHSCT in patients with AML in complete remission (CR). From 2/2005 to 9/2014, 60 patients with a median age of 54 years (range=30-66 years) with normal karyotype-AML harboring nucleophosmin 1 (NPM1) mutation [53% Fms-related tyrosine kinase receptor 3 internal tandem duplication (FLT3/ITD)-positive] in first (n=45) or second (n=15) CR underwent myeloablative (n=16) or reduced-intensity (n=44) alloHSCT (27% related, 73% unrelated). The MRD level was determined from bone marrow samples using real-time polymerase chain reaction for detection of NPM1 mutations before starting the conditioning regimen. The estimated probabilities of 3-year relapse, event-free survival (EFS) and overall survival (OS) for the whole cohort were 28%, 54%, and 59%, respectively. Statistical analysis showed that only age over 63 years and high MRD level affected alloHSCT outcome. Pre-transplant MRD level of 10 mutant copies of NPM1 per 10,000 Abelson murine leukemia viral oncogene homolog 1 (ABL) copies had the strongest statistical significance, and detection of higher MRD level (>10 NPM1-mutant copies) before alloHSCT was associated with increased overall mortality (hazard ratio=3.71; 95% confidence interval=1.55-9.06; p=0.004). The estimated probabilities of 3-year relapse, EFS, and OS were 6%, 72%, and 75% for patients with a low level of MRD and 48%, 35%, and 40% for patients with a higher level. Our data showed that the pre-transplant level of MRD in patients with normal karyotype AML harboring NPM1 mutation in CR provides important prognostic information, which as an independent prognostic factor predicts transplant results. Copyright© 2016 International Institute of

  3. 5-Hydroxymethylcytosine correlates with epigenetic regulatory mutations, but may not have prognostic value in predicting survival in normal karyotype acute myeloid leukemia.

    PubMed

    Ahn, Jae-Sook; Kim, Hyeoung-Joon; Kim, Yeo-Kyeoung; Lee, Seung-Shin; Ahn, Seo-Yeon; Jung, Sung-Hoon; Yang, Deok-Hwan; Lee, Je-Jung; Park, Hee Jeong; Choi, Seung Hyun; Jung, Chul Won; Jang, Jun-Ho; Kim, Hee Je; Moon, Joon Ho; Sohn, Sang Kyun; Won, Jong-Ho; Kim, Sung-Hyun; Michael, Szardenings; Minden, Mark D; Kim, Dennis Dong Hwan

    2017-01-31

    Stem cells display remarkably high levels of 5-hydroxymethylcytosine (5hmC). Both TET2 and IDH1/2 mutations can impair the production of 5hmC, thus decreasing 5hmC levels. TET2 or IDH1/2 mutations are commonly observed in acute myeloid leukemia (AML). However, the implications of 5hmC on survival in normal karyotype AML patients have not been fully evaluated. The 5hmC levels were analyzed in 375 patients using ELISA. The levels of 5hmC in DNA samples were converted to a log scale for the analysis and correlations with TET2 and/or IDH1/2 mutations were evaluated. The median 5hmC level was 0.065% (range 0.001-0.999). Mutation rates were 13.1% for TET2mut, 6.7% for IDH1mut, and 13.9% for IDH2mut. The prevalence of TET2 and/or IDH1/2 was 33.1% (124/375). TET2 and IDH1/2 mutated patients had significantly lower levels of log(5hmC) compared with patients without TET2 or IDH1/2 mutations (p<0.001). With a median follow-up of 55.5 months (range, 0.7-179.8), there was no significant difference in overall survival, event-free survival, and relapse risk according to TET2mut or IDH1/2mut (all, p>0.05). To identify its prognostic value, we sub-classified the levels of 5hmC into tertiles for 5hmC values. However, there was no significant association between the categories of 5hmC levels and survival or relapse risk (all p>0.05). Patients with TET2 or IDH1/2 mutations had lower levels of 5hmC. The 5hmC levels may not be predictive of survival in patients with normal karyotype AML.

  4. Molecular analysis of chromosome 21 in a patient with a phenotype of down syndrome and apparently normal karyotype

    SciTech Connect

    Ahlbom, B.E.; Wadelius, C.; Zech, L.; Anneren, G.

    1996-06-28

    Down syndrome (DS) is caused in most cases by the presence of an extra chromosome 21. It has been shown that the DS phenotype is produced by duplication of only a small part of the long arm of chromosome 21, the 21q22 region, including and distal to locus D21S55. We present molecular investigations on a woman with clinically typical DS but apparently normal chromosomes. Her parents were consanguineous and she had a sister with a DS phenotype, who died at the age of 15 days. Repeated cytogenetic investigations (G-banding and high resolution banding) on the patient and her parents showed apparently normal chromosomes. Autoradiographs of quantitative Southern blots of DNAs from the patient, her parents, trisomy 21 patients, and normal controls were analyzed after hybridization with unique DNA sequences regionally mapped on chromosome 21. Sequences D21S59, D21S1, D21S11, D21S8, D21S17, D21S55, ERG, D21S15, D21S112, and COL6A1 were all found in two copies. Fluorescent in situ hybridization with a chromosome 21-specific genomic library showed no abnormalities and only two copies of chromosome 21 were detected. Nineteen markers from the critical region studied with polymerase chain reaction amplification of di- and tetranucleotide repeats did not indicate any partial trisomy 21. From his study we conclude that the patient does not have any partial submicroscopic trisomy for any segment of chromosome 21. It seems reasonable to assume that she suffers from an autosomal recessive disorder which is phenotypically indistinguishable from DS. 23 refs., 6 figs., 3 tabs.

  5. ELMO1 Is Upregulated in AML CD34+ Stem/Progenitor Cells, Mediates Chemotaxis and Predicts Poor Prognosis in Normal Karyotype AML

    PubMed Central

    Capala, Marta E.; Vellenga, Edo; Schuringa, Jan Jacob

    2014-01-01

    Both normal as well leukemic hematopoietic stem cells critically depend on their microenvironment in the bone marrow for processes such as self-renewal, survival and differentiation, although the exact pathways that are involved remain poorly understood. We performed transcriptome analysis on primitive CD34+ acute myeloid leukemia (AML) cells (n = 46), their more differentiated CD34− leukemic progeny, and normal CD34+ bone marrow cells (n = 31) and focused on differentially expressed genes involved in adhesion and migration. Thus, Engulfment and Motility protein 1 (ELMO1) was identified amongst the top 50 most differentially expressed genes. ELMO1 is a crucial link in the signaling cascade that leads to activation of RAC GTPases and cytoskeleton rearrangements. We confirmed increased ELMO1 expression at the mRNA and protein level in a panel of AML samples and showed that high ELMO1 expression is an independent negative prognostic factor in normal karyotype (NK) AML in three large independent patient cohorts. Downmodulation of ELMO1 in human CB CD34+ cells did not significantly alter expansion, progenitor frequency or differentiation in stromal co-cultures, but did result in a decreased frequency of stem cells in LTC-IC assays. In BCR-ABL-transduced human CB CD34+ cells depletion of ELMO1 resulted in a mild decrease in proliferation, but replating capacity of progenitors was severely impaired. Downregulation of ELMO1 in a panel of primary CD34+ AML cells also resulted in reduced long-term growth in stromal co-cultures in two out of three cases. Pharmacological inhibition of the ELMO1 downstream target RAC resulted in a severely impaired proliferation and survival of leukemic cells. Finally, ELMO1 depletion caused a marked decrease in SDF1-induced chemotaxis of leukemic cells. Taken together, these data show that inhibiting the ELMO1-RAC axis might be an alternative way to target leukemic cells. PMID:25360637

  6. CEBPA copy number variations in normal karyotype acute myeloid leukemia: Possible role of breakpoint-associated microhomology and chromatin status in CEBPA mutagenesis.

    PubMed

    Libura, Marta; Pawełczyk, Marta; Florek, Izabella; Matiakowska, Karolina; Jaźwiec, Bożena; Borg, Katarzyna; Solarska, Iwona; Zawada, Magdalena; Czekalska, Sylwia; Libura, Jolanta; Salamanczuk, Zoriana; Jakóbczyk, Małgorzata; Mucha, Barbara; Duszeńko, Ewa; Soszyńska, Krystyna; Karabin, Karolina; Piątkowska-Jakubas, Beata; Całbecka, Małgorzata; Gajkowska-Kulig, Justyna; Gadomska, Grażyna; Kiełbiński, Marek; Ejduk, Anna; Kata, Dariusz; Grosicki, Sebastian; Kyrcz-Krzemień, Sławomira; Warzocha, Krzysztof; Kuliczkowski, Kazimierz; Skotnicki, Aleksander; Jęrzejczak, Wiesław Wiktor; Haus, Olga

    2015-12-01

    Copy number variations (CNV) in CEBPA locus represent heterogeneous group of mutations accompanying acute myeloid leukemia (AML). The aim of this study was to characterize different CEBPA mutation categories in regard to biological data like age, cytology, CD7, and molecular markers, and identify possible factors affecting their etiology. We report here the incidence of 12.6% of CEBPA mutants in the population of 262 normal karyotype AML (NK-AML) patients. We confirmed that double mutant AMLs presented uniform biological features when compared to single CEBPA mutations and accompanied mostly younger patients. We hypothesized that pathogenesis of distinct CEBPA mutation categories might be influenced by different factors. The detailed sequence analysis revealed frequent breakpoint-associated microhomologies of 2 to 12bp. The analysis of distribution of microhomology motifs along CEBPA gene showed that longer stretches of microhomology at the mutational junctions were relatively rare by chance which suggests their functional role in the CEBPA mutagenesis. Additionally, accurate quantification of CEBPA transcript levels showed that double CEBPA mutations correlated with high-level CEBPA expression, whereas single N-terminal CEBPA mutations were associated with low-level CEBPA expression. This might suggest that high-level CEBPA expression and/or accessibility of CEBPA locus contribute to B-ZIP in-frame duplications.

  7. Meiotic studies of infertile men in case of non-obstructive azoospermia with normal karyotype and no microdeleted Y-chromosome precise the clinical couple management.

    PubMed

    North, Marie-Odile; Lellei, Ilona; Erdei, Edit; Barbet, Jacques Patrick; Tritto, Joseph

    2004-01-01

    To identify meiotic criteria for infertility management in non-obstructive azoospermic men, a prospective and multicentric study was organized in Andrological Departments of Paris (France), Roma (Italy) and Budapest (Hungary). In 117 non-obstructive azoospermic men with normal karyotype and no Y-chromosome microdeletion, histology and meiotic studies on bilateral bipolar testicular biopsies were done. Histologically, 40 patients (34%) presented spermatocyte or spermatid arrest, 39 (33%) hypospermatogenesis whereas no meiotic cell could be observed in the remaining patients (33%). Cytogenetically, meiotic figures could only be obtained from the two first histological groups. Meiotic abnormalities were observed in a total of 44 patients (37.6%) including nine patients (7.7%) with severe class I and class IIB anomalies and 19 patients (16.2%) with class IIC environmentally linked meiotic abnormalities. These results provided essential clues for an accurate clinical management. For patients with no meiotic figures and patients with class I and class IIB anomalies, an hormonal stimulation is illusory and a sperm gift should be directly proposed. An hormonal stimulation should be proposed to all the other patients, either directly or following the treatment of the testicular microenvironment for the patients presenting class IIC anomalies. The genetic risk and possibility of prenatal chromosomal analysis in case of pregnancy should be clearly exposed to all the couples in all the cases where type IIA, III or IV anomalies are present. This therapeutical strategy has been applied to all the patients in our series.

  8. Prevalence and Prognostic Value of IDH1 R132 Mutation in Newly Diagnosed AML Egyptian Patients with Normal Karyotype.

    PubMed

    Salem, Dalia; El-Aziz, Sherin Abd; El-Menshawy, Nadia; Abouzeid, Tarek; Ebrahim, Mohamed

    2017-03-01

    Mutation in IDH1 gene was suggested to be associated with bad prognosis in cytogenetically normal AML (CN-AML). However, there are conflicting data about its prognostic impact. Besides, its prevalence and prognostic significance in Egyptian patients still not fully stated. We aimed to assess the prevalence of IDH1(R132) mutation in Egyptian CN-AML patients, its correlation with FAB subtypes, and clinical outcome of those patients. Sequencing of amplified IDH1 gene exon four from 50 patients was performed to detect codon R132 point mutation. High prevalence of IDH1 mutation was detected in our patients (9/50, 18 %). Mutated IDH1(R132) was associated with older age and higher platelets count (p = 0.04 and 0.01 respectively). The most common FAB subtype associated with mutated IDH1(R132) was AML-M2 followed by M4. In multivariate analysis, IDH1(R132) mutation was found as independent prognostic variable. It was significantly associated with lower CR and shorter OS (p = 0.06 and 0.009 respectively).

  9. Normal karyotype acute myeloid leukemia patients with CEBPA double mutation have a favorable prognosis but no survival benefit from allogeneic stem cell transplant.

    PubMed

    Ahn, Jae-Sook; Kim, Jae-Young; Kim, Hyeoung-Joon; Kim, Yeo-Kyeoung; Lee, Seung-Shin; Jung, Sung-Hoon; Yang, Deok-Hwan; Lee, Je-Jung; Kim, Nan Young; Choi, Seung Hyun; Minden, Mark D; Jung, Chul Won; Jang, Jun-Ho; Kim, Hee Je; Moon, Joon Ho; Sohn, Sang Kyun; Won, Jong-Ho; Kim, Sung-Hyun; Kim, Dennis Dong Hwan

    2016-01-01

    Normal karyotype acute myeloid leukemia (NK-AML) with CCAAT/enhancer binding protein α (CEBPA) mutations is known to have a more favorable prognosis. However, direct comparison of the clinical significance according to consolidation therapy has not been widely performed in patients with NK-AML. A total of 404 patients with NK-AML who received intensive induction chemotherapy were included in the present study. Diagnostic samples from the patients were evaluated for CEBPA mutations by direct sequencing. CEBPA single (sm) or double mutation (dm) was observed in 27 (6.7 %) and 51 (12.6 %) patients, respectively. CEBPA (dm) was associated with GATA2 (mut), and it was less frequently associated with FLT3-ITD(pos), NPM1 (mut), and DNMT3A (mut) in comparison with CEBPA (wild) or CEBPA (sm) (all p values <0.05). On multivariate analysis, CEBPA (dm) (p = 0.007, OR 39.593) was an independent risk factor for achievement of complete remission (CR). With a median follow-up of 40.1 months, CEBPA (dm) showed a favorable overall survival (OS), event-free survival (EFS), and lower relapse incidence (RI) in comparison with CEBPA (wild) (all p values <0.005). Comparison of clinical outcome analyses (consolidation chemotherapy vs. allogeneic hematopoietic cell transplantation (HCT)) demonstrated the role of consolidation treatment in patients with CEBPA (dm). Allogeneic HCT was associated with lower EFS and RI and a trend of higher non-relapse mortality. However, there was no statistically significant difference in OS. In conclusion, CEBPA (dm) was associated with other molecular mutations. Consolidation chemotherapy alone may overcome higher relapse rates by reducing the treatment mortality and increasing survival after relapse events in patients with CEBPA (dm) in NK-AML.

  10. Somatic mutations of isocitrate dehydrogenases 1 and 2 are prognostic and follow-up markers in patients with acute myeloid leukaemia with normal karyotype

    PubMed Central

    Karan-Djurasevic, Teodora; Marjanovic, Irena; Tosic, Natasa; Mitrovic, Mirjana; Djunic, Irena; Colovic, Natasa; Vidovic, Ana; Suvajdzic-Vukovic, Nada; Tomin, Dragica; Pavlovic, Sonja

    2016-01-01

    Abstract Background Mutations in the isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) genes are frequent molecular lesions in acute myeloid leukaemia with normal karyotype (AML-NK). The effects of IDH mutations on clinical features and treatment outcome in AML-NK have been widely investigated, but only a few studies monitored these mutations during follow-up. Patients and methods In our study samples from 110 adult de novo AML-NK were studied for the presence of IDH1 and IDH2 mutations, their associations with other prognostic markers and disease outcome. We also analyzed the stability of these mutations during the course of the disease in complete remission (CR) and relapse. Results IDH mutations were found in 25 (23%) patients. IDH+ patients tend to have lower CR rate compared to IDH-patients (44% vs 62.2%, p = 0.152), and had slightly lower disease free survival (12 months vs 17 months; p = 0.091). On the other hand, the presence of IDH mutations had significant impact on overall survival (2 vs 7 months; p = 0.039). The stability of IDH mutations were studied sequentially in 19 IDH+ patients. All of them lost the mutation in CR, and the same IDH mutations were detected in relapsed samples. Conclusions Our study shows that the presence of IDH mutations confer an adverse effect in AML-NK patients, which in combination with other molecular markers can lead to an improved risk stratification and better treatment. Also, IDH mutations are very stable during the course of the disease and can be potentially used as markers for minimal residual disease detection. PMID:27904446

  11. Decreased survival in normal karyotype AML with single-nucleotide polymorphisms in genes encoding the AraC metabolizing enzymes cytidine deaminase and 5'-nucleotidase.

    PubMed

    Falk, Ingrid Jakobsen; Fyrberg, Anna; Paul, Esbjörn; Nahi, Hareth; Hermanson, Monica; Rosenquist, Richard; Höglund, Martin; Palmqvist, Lars; Stockelberg, Dick; Wei, Yuan; Gréen, Henrik; Lotfi, Kourosh

    2013-12-01

    De novo acute myeloid leukemia with normal karyotype (NK-AML) comprises a large group of patients with no common cytogenetic alterations and with a large variation in treatment response. Single-nucleotide polymorphisms (SNPs) in genes related to the metabolism of the nucleoside analogue AraC, the backbone in AML treatment, might affect drug sensitivity and treatment outcome. Therefore, SNPs may serve as prognostic biomarkers aiding clinicians in individualized treatment decisions, with the aim of improving patient outcomes. We analyzed polymorphisms in genes encoding cytidine deaminase (CDA 79A>C rs2072671 and -451C>T rs532545), 5'-nucleotidase (cN-II 7A>G rs10883841), and deoxycytidine kinase (DCK 3'UTR 948T>C rs4643786) in 205 de novo NK-AML patients. In FLT3-internal tandem duplication (ITD)-positive patients, the CDA 79C/C and -451T/T genotypes were associated with shorter overall survival compared to other genotypes (5 vs. 24 months, P < 0.001 and 5 vs. 23 months, P = 0.015, respectively), and this was most pronounced in FLT3-ITD-positive/NPM1-positive patients. We observed altered in vitro sensitivity to topoisomerase inhibitory drugs, but not to nucleoside analogues, and a decrease in global DNA methylation in cells carrying both CDA variant alleles. A shorter survival was also observed for the cN-II variant allele, but only in FLT3-ITD-negative patients (25 vs. 31 months, P = 0.075). Our results indicate that polymorphisms in genes related to nucleoside analog drug metabolism may serve as prognostic markers in de novo NK-AML.

  12. Conventional karyotyping and fluorescence in situ hybridization: an effective utilization strategy in diagnostic adult acute myeloid leukemia.

    PubMed

    He, Rong; Wiktor, Anne E; Hanson, Curtis A; Ketterling, Rhett P; Kurtin, Paul J; Van Dyke, Daniel L; Litzow, Mark R; Howard, Matthew T; Howard, Matthew H; Reichard, Kaaren K

    2015-06-01

    Cytogenetics defines disease entities and predicts prognosis in acute myeloid leukemia (AML). Conventional karyotyping provides a comprehensive view of the genome, while fluorescence in situ hybridization (FISH) detects targeted abnormalities. The aim of this study was to compare the utility of karyotyping and FISH in adult AML. We studied 250 adult AML cases with concurrent karyotyping and FISH testing. Karyotyping was considered adequate when 20 or more metaphases were analyzed. In total, 220 cases had adequate karyotyping and were classified as normal karyotype/normal FISH (n = 92), normal karyotype/abnormal FISH (n = 4), abnormal karyotype/normal FISH (n = 8), and abnormal karyotype/abnormal FISH (n = 116). The overall karyotype/FISH concordance rate was 97.7% with five discordant cases identified, four from the normal karyotype/abnormal FISH group and one from the abnormal karyotype/abnormal FISH group. No karyotype/FISH discordance was seen in the abnormal karyotype/normal FISH group for the FISH probes evaluated. FISH lent prognostic information in one (0.5%) of 220 cases with normal karyotype/abnormal FISH: CBFB-MYH11 fusion, indicating favorable prognosis. In adult AML, FISH rarely provides additional information when karyotyping is adequate. We therefore propose an evidence-based, cost-effective algorithmic approach for routine conventional karyotype and FISH testing in adult AML workup. Copyright© by the American Society for Clinical Pathology.

  13. Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX.

    PubMed

    Balci, Sevim; Tümer, Celal; Karaca, Ciğdem; Bartsch, Oliver

    2011-05-01

    We report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of C2-C3 vertebrae, intellectual disability, and severe sleep apnea. Chromosome analysis of blood lymphocytes showed 75% ring (18) cells and 25% normal cells, karyotype mos 46,XY,r(18)(::p11→q21::)[75]/46,XY[25]. His mother was phenotypically normal except for a double ureter and bifid renal pelvis as in his son. She had a supernumerary ring (18) in 10% of blood lymphocytes, karyotype mos 47,XX,+r(18)(::p11→q21::)[10]/46,XX[90]. Familial ring (18) is a rare cytogenetic abnormality. This is the first report of a mother with a supernumerary ring (18) and a son with ring (18) mosaicism. Interestingly, the son showed a true mosaicism (mixoploidy) of ring (18) and normal cells. The mother's 46,XX cells could be easily explained by mitotic instability and ring loss during cell division. However, the coexistence of ring (18) and normal cells in the son is unusual. Possibly, during early postzygotic divisions of a 47,XY,+r(18) zygote, two (possibly subsequent) genetic events could have occurred, one when one normal chromosome 18 was lost (resulting in a cell line with ring 18), and one when the ring 18 was lost (resulting in a cell line without ring, "escape to normal"). Alternatively, the zygote of the son could have been 46,XY,r(18), and postzygotic loss of the ring 18 could have resulted in monosomy 18 cells followed by duplication of chromosome 18 in these cells (a rare mechanism for cell survival previously described as "compensatory" isodisomy).

  14. Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage.

    PubMed

    Liu, S; Song, L; Cram, D S; Xiong, L; Wang, K; Wu, R; Liu, J; Deng, K; Jia, B; Zhong, M; Yang, F

    2015-10-01

    To compare the performance of traditional G-banding karyotyping with that of copy number variation sequencing (CNV-Seq) for detection of chromosomal abnormalities associated with miscarriage. Products of conception (POC) were collected from spontaneous miscarriages. Chromosomal abnormalities were detected using high-resolution G-banding karyotyping and CNV sequencing. Quantitative fluorescent polymerase chain reaction analysis of maternal and POC DNA for short tandem repeat (STR) markers was used to both monitor maternal cell contamination and confirm the chromosomal status and sex of the miscarriage tissue. A total of 64 samples of POC, comprising 16 with an abnormal and 48 with a normal karyotype, were selected and coded for analysis by CNV-Seq. CNV-Seq results were concordant for 14 (87.5%) of the 16 gross chromosomal abnormalities identified by karyotyping, including 11 autosomal trisomies and three sex chromosomal aneuploidies (45,X). Of the two discordant results, a 69,XXX polyploidy was missed by CNV-Seq, although supporting STR marker analysis confirmed the triploidy. In contrast, CNV-Seq identified a sample with 45,X karyotype as a 45,X/46,XY mosaic. In the remaining 48 samples of POC with a normal karyotype, CNV-Seq detected a 2.58-Mb 22q deletion associated with DiGeorge syndrome and nine different smaller CNVs of no apparent clinical significance. CNV-Seq used in parallel with STR profiling is a reliable and accurate alternative to karyotyping for identifying chromosome copy number abnormalities associated with spontaneous miscarriage. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  15. Biome representational in silico karyotyping.

    PubMed

    Muthappan, Valliammai; Lee, Aaron Y; Lamprecht, Tamara L; Akileswaran, Lakshmi; Dintzis, Suzanne M; Lee, Choli; Magrini, Vincent; Mardis, Elaine R; Shendure, Jay; Van Gelder, Russell N

    2011-04-01

    Metagenomic characterization of complex biomes remains challenging. Here we describe a modification of digital karyotyping-biome representational in silico karyotyping (BRISK)-as a general technique for analyzing a defined representation of all DNA present in a sample. BRISK utilizes a Type IIB DNA restriction enzyme to create a defined representation of 27-mer DNAs in a sample. Massively parallel sequencing of this representation allows for construction of high-resolution karyotypes and identification of multiple species within a biome. Application to normal human tissue demonstrated linear recovery of tags by chromosome. We apply this technique to the biome of the oral mucosa and find that greater than 25% of recovered DNA is nonhuman. DNA from 41 microbial species could be identified from oral mucosa of two subjects. Of recovered nonhuman sequences, fewer than 30% are currently annotated. We characterized seven prevalent unknown sequences by chromosome walking and find these represent novel microbial sequences including two likely derived from novel phage genomes. Application of BRISK to archival tissue from a nasopharyngeal carcinoma resulted in identification of Epstein-Barr virus infection. These results suggest that BRISK is a powerful technique for the analysis of complex microbiomes and potentially for pathogen discovery.

  16. Influence of molecular subgroups on outcome of acute myeloid leukemia with normal karyotype in 141 patients undergoing salvage allogeneic stem cell transplantation in primary induction failure or beyond first relapse

    PubMed Central

    Pfeiffer, Tim; Schleuning, Michael; Mayer, Jiri; Haude, Karl-Heinz; Tischer, Johanna; Buchholz, Stefanie; Bunjes, Donald; Bug, Gesine; Holler, Ernst; Meyer, Ralf G.; Greinix, Hildegard; Scheid, Christof; Christopeit, Maximilian; Schnittger, Susanne; Braess, Jan; Schlimok, Günter; Spiekermann, Karsten; Ganser, Arnold; Kolb, Hans-Jochem; Schmid, Christoph

    2013-01-01

    Based on molecular aberrations, in particular the NPM1 mutation (NPM1mut) and the FLT3 internal tandem duplication (Flt3-ITD), prognostic subgroups have been defined among patients with acute myeloid leukemia with normal karyotype. Whereas these subgroups are known to play an important role in outcome in first complete remission, and also in the indication for allogeneic stem cell transplantation, data are limited on their role after transplantation in advanced disease. To evaluate the role of molecular subgroups of acute myeloid leukemia with normal karyotype after allogeneic stem cell transplantation beyond first complete remission, we analyzed the data from 141 consecutive adults (median age: 51.0 years, range 18.4-69.3 years) who had received an allogeneic transplant either in primary induction failure or beyond first complete remission. A sequential regimen of cytoreductive chemotherapy (fludarabine, high-dose AraC, amsacrine) followed by reduced intensity conditioning (FLAMSA-RIC), was uniformly used for conditioning. After a median follow up of three years, overall survival from transplantation was 64±4%, 53±4% and 44±5% at one, two and four years, respectively. Forty patients transplanted in primary induction failure achieved an encouraging 2-year survival of 69%. Among 101 patients transplanted beyond first complete remission, 2-year survival was 81% among patients with the NPM1mut/FLT3wt genotype in contrast to 43% in other genotypes. Higher numbers of transfused CD34+ cells (hazard ratio 2.155, 95% confidence interval 0.263-0.964, P=0.039) and favorable genotype (hazard ratio 0.142, 95% confidence interval: 0.19-0.898, P=0.048) were associated with superior overall survival in multivariate analysis. In conclusion, patients with acute myeloid leukemia with normal karyotype can frequently be rescued after primary induction failure by allogeneic transplantation following FLAMSA-RIC. The prognostic role of NPM1mut/FLT3-ITD based subgroups was carried

  17. Karyotypes of 1142 couples with recurrent abortion.

    PubMed

    Portnoï, M F; Joye, N; van den Akker, J; Morlier, G; Taillemite, J L

    1988-07-01

    Cytogenetic analysis was performed on 1142 couples with recurrent pregnancy loss. The frequency of major chromosomal abnormalities per couple was 4.8%. Among 771 couples who had only abortions, the rate of rearrangement did not correlate with the number of abortions. The highest incidence of cytogenetic abnormalities (6.6%) was found in 256 couples with abortion and a normal child. With regard to pregnancy outcome, no unbalanced fetal karyotype was found in prenatal diagnoses, and 40 normal children were born. The risk of unbalanced fetal karyotype is therefore low, but probably high enough for these couples to be offered the possibility of a prenatal diagnosis.

  18. Cancer-associated fibroblasts in a human HEp-2 established laryngeal xenografted tumor are not derived from cancer cells through epithelial-mesenchymal transition, phenotypically activated but karyotypically normal.

    PubMed

    Wang, Mei; Wu, Chun-Ping; Pan, Jun-Yan; Zheng, Wen-Wei; Cao, Xiao-Juan; Fan, Guo-Kang

    2015-01-01

    Cancer-associated fibroblasts (CAFs) play a crucial role in cancer progression and even initiation. However, the origins of CAFs in various cancer types remain controversial, and one of the important hypothesized origins is through epithelial-mesenchymal transition (EMT) from cancer cells. In this study, we investigated whether the HEp-2 laryngeal cancer cells are able to generate CAFs via EMT during tumor formation, which is now still unknown. The laryngeal xenografted tumor model was established by inoculating the HEp-2 laryngeal cancer cell line in nude mice. Primary cultured CAFs from the tumor nodules and matched normal fibroblasts (NFs) from the adjacent connective tissues were subcultured, purified, and verified by immunofluorescence. Migration, invasion, and proliferation potentials were compared between the CAFs and NFs. A co-culture of CAFs with HEp-2 cells and a co-injection of CAFs with HEp-2 cells in nude mice were performed to examine the cancer-promoting potential of CAFs to further verify their identity. Karyotypic analyses of the CAFs, NFs, and HEp-2 cells were conducted. A co-culture of NFs with HEp-2 cells was also performed to examine the expression of activated markers of CAFs. A pathological examination confirmed that the laryngeal xenografted tumor model was successfully established, containing abundant CAFs. Immunocytochemical staining verified the purities and identities of the CAFs and NFs. Although the CAFs manifested higher migration, invasion, proliferation, and cancer-promoting capacities compared with the NFs, an analysis of chromosomes revealed that both the CAFs and NFs showed typical normal mouse karyotypes. In addition, the NFs co-cultured with HEp-2 cells did not show induced expressions of activated markers of CAFs. Our findings reveal that the CAFs in the HEp-2 established laryngeal xenografted tumor are not of laryngeal cancer origin but of mouse origin, indicating that the HEp-2 laryngeal cancer cells cannot generate their

  19. Cancer-Associated Fibroblasts in a Human HEp-2 Established Laryngeal Xenografted Tumor Are Not Derived from Cancer Cells through Epithelial-Mesenchymal Transition, Phenotypically Activated but Karyotypically Normal

    PubMed Central

    Wang, Mei; Wu, Chun-Ping; Pan, Jun-Yan; Zheng, Wen-Wei; Cao, Xiao-Juan; Fan, Guo-Kang

    2015-01-01

    Cancer-associated fibroblasts (CAFs) play a crucial role in cancer progression and even initiation. However, the origins of CAFs in various cancer types remain controversial, and one of the important hypothesized origins is through epithelial-mesenchymal transition (EMT) from cancer cells. In this study, we investigated whether the HEp-2 laryngeal cancer cells are able to generate CAFs via EMT during tumor formation, which is now still unknown. The laryngeal xenografted tumor model was established by inoculating the HEp-2 laryngeal cancer cell line in nude mice. Primary cultured CAFs from the tumor nodules and matched normal fibroblasts (NFs) from the adjacent connective tissues were subcultured, purified, and verified by immunofluorescence. Migration, invasion, and proliferation potentials were compared between the CAFs and NFs. A co-culture of CAFs with HEp-2 cells and a co-injection of CAFs with HEp-2 cells in nude mice were performed to examine the cancer-promoting potential of CAFs to further verify their identity. Karyotypic analyses of the CAFs, NFs, and HEp-2 cells were conducted. A co-culture of NFs with HEp-2 cells was also performed to examine the expression of activated markers of CAFs. A pathological examination confirmed that the laryngeal xenografted tumor model was successfully established, containing abundant CAFs. Immunocytochemical staining verified the purities and identities of the CAFs and NFs. Although the CAFs manifested higher migration, invasion, proliferation, and cancer-promoting capacities compared with the NFs, an analysis of chromosomes revealed that both the CAFs and NFs showed typical normal mouse karyotypes. In addition, the NFs co-cultured with HEp-2 cells did not show induced expressions of activated markers of CAFs. Our findings reveal that the CAFs in the HEp-2 established laryngeal xenografted tumor are not of laryngeal cancer origin but of mouse origin, indicating that the HEp-2 laryngeal cancer cells cannot generate their

  20. [Chromosome and karyotype analysis of Amorphophallus coaetaneus].

    PubMed

    Wei, Songji; Wen, Biaocai

    2003-11-01

    The research of Amorphophallus coaetaneus chromosome shows that the chromosome number of normal diploid is 2n = 26, karyotype formula is 2n = 26 = 20m + 6sm, which belongs to "2B" type. Compared with other species in the same genus, Amorphophallus coaetaneus is more primitive.

  1. DNA index and karyotype analysis in myelodysplasia.

    PubMed

    Hoy, T G; Geddes, A D; Jacobs, A

    1989-05-01

    DNA index (DI) determined by flow cytometry and karyotype determined by conventional methods were obtained on bone marrow samples from 43 haematologically normal subjects and 54 patients with myelodysplastic syndrome (MDS). Twenty one patients had a clonal karyotype abnormality but an additional five had a DI outside the normal range, showing evidence of aneuploidy that was not available from chromsome preparations. When patients were grouped into those with excess chromosomal material, those with diploid karyotypes, and those with a loss of chromosomal material, there was a significant difference among the mean DIs of each group, normal subjects being different from all patient groups. In these patients DI measurements were of value when carried out together with conventional chromsomal analysis in gaining the maximum amount of genetic information when a satisfactory karyotype might not be available or where failure of an abnormal cell population to proliferate might give an incomplete cytogenetic picture. The contribution of non-clonal chromsome loss to the DI is probably significant but has not been quantitated.

  2. DNA index and karyotype analysis in myelodysplasia.

    PubMed Central

    Hoy, T G; Geddes, A D; Jacobs, A

    1989-01-01

    DNA index (DI) determined by flow cytometry and karyotype determined by conventional methods were obtained on bone marrow samples from 43 haematologically normal subjects and 54 patients with myelodysplastic syndrome (MDS). Twenty one patients had a clonal karyotype abnormality but an additional five had a DI outside the normal range, showing evidence of aneuploidy that was not available from chromsome preparations. When patients were grouped into those with excess chromosomal material, those with diploid karyotypes, and those with a loss of chromosomal material, there was a significant difference among the mean DIs of each group, normal subjects being different from all patient groups. In these patients DI measurements were of value when carried out together with conventional chromsomal analysis in gaining the maximum amount of genetic information when a satisfactory karyotype might not be available or where failure of an abnormal cell population to proliferate might give an incomplete cytogenetic picture. The contribution of non-clonal chromsome loss to the DI is probably significant but has not been quantitated. PMID:2732343

  3. Biome representational in silico karyotyping

    PubMed Central

    Muthappan, Valliammai; Lee, Aaron Y.; Lamprecht, Tamara L.; Akileswaran, Lakshmi; Dintzis, Suzanne M.; Lee, Choli; Magrini, Vincent; Mardis, Elaine R.; Shendure, Jay; Van Gelder, Russell N.

    2011-01-01

    Metagenomic characterization of complex biomes remains challenging. Here we describe a modification of digital karyotyping—biome representational in silico karyotyping (BRISK)—as a general technique for analyzing a defined representation of all DNA present in a sample. BRISK utilizes a Type IIB DNA restriction enzyme to create a defined representation of 27-mer DNAs in a sample. Massively parallel sequencing of this representation allows for construction of high-resolution karyotypes and identification of multiple species within a biome. Application to normal human tissue demonstrated linear recovery of tags by chromosome. We apply this technique to the biome of the oral mucosa and find that greater than 25% of recovered DNA is nonhuman. DNA from 41 microbial species could be identified from oral mucosa of two subjects. Of recovered nonhuman sequences, fewer than 30% are currently annotated. We characterized seven prevalent unknown sequences by chromosome walking and find these represent novel microbial sequences including two likely derived from novel phage genomes. Application of BRISK to archival tissue from a nasopharyngeal carcinoma resulted in identification of Epstein-Barr virus infection. These results suggest that BRISK is a powerful technique for the analysis of complex microbiomes and potentially for pathogen discovery. PMID:21324882

  4. DNA-based human karyotype

    SciTech Connect

    Mayall, B.H.; Carrano, A.V.; Moore, C.H. II; Ashworth, L.K.; Bennett, D.E.; Mendelsohn, M.L.

    1984-01-01

    Image cytometry and computer analysis are used to determine the relative DNA content and the DNA-based centromeric index of the 24 chromosomes of the human karyotype. A two-step procedure is used. Chromosomes of cells in metaphase first are stained with quinacrine and identified visually by their fluorescent Q-band patterns. They then are stained for DNA using gallocyanin-chrome alum. The chromosome images are scanned and recorded as digital values of optical density by an CYDAC image cytometric microscope system, CYDAC. The digital images are processed by computer to measure for each chromosome the relative DNA stain contents of the whole chromosome and of the p and q arms and the DNA-based centromeric index. About ten cells are analyzed for each of the donors, who are phenotypically normal men and women. The chromosome measurements are pooled by chromosome type for each donor and are compared among donors. The means of the chromosome measurements give the DNA-based human karyotype. Analysis of the DNA-based data shows that some chromosomes or portions of chromosomes vary significantly among donors. These variants do not correlate with detectable morphologic polymorphisms, such as Q- or C-band variants; thus they represent new and otherwise undetectable chromosome polymorphisms whose genetic basis and clinical significance are yet to be determined. 54 references, 1 figure, 3 tables.

  5. Karyotype analysis of Rheum palmatum.

    PubMed

    Ye, J Q; Jia, Y Y; Fan, K; Sun, X J; Wang, X M

    2014-10-31

    Rheum palmatum, one of the source plants of the traditional Chinese medicine rhubarb, is anendemic and endangered species. To our knowledge, this is the first report on the chromosome number and karyotype of this species. Sectioning combined with micrography was used to analyze the karyotype. The following results were obtained: R. palmatum had a stable chromosome number 2n = 22; the basic number of chromosomes was 11; karyotype formula is 2n = 22 = 20 metacentric + 2 submetacentric, belonging to Stebbins' 1A type; and karyotype asymmetry index was 55.39%. The present study showed that R. palmatum has a primitive type of karyotype.

  6. Immunosurveillance of Malignant Cells with Complex Karyotypes.

    PubMed

    López-Soto, Alejandro; Gonzalez, Segundo; López-Larrea, Carlos; Kroemer, Guido

    2017-09-19

    A wide array of cell-intrinsic surveillance mechanisms maintains the homeostasis of dividing cells and the integrity of the genome. Accumulating evidence also supports a role for cell-extrinsic mechanisms. Among them, the immune system, together with cell-autonomous checkpoint processes, eliminates cells that harbor unbalanced karyotypes generated by mitotic defects. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

    PubMed Central

    Wapner, Ronald J.; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C.; Eng, Christine M.; Zachary, Julia M.; Savage, Melissa; Platt, Lawrence D.; Saltzman, Daniel; Grobman, William A.; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S.; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N.; Thom, Elizabeth A.; Beaudet, Arthur L.; Ledbetter, David H.; Shaffer, Lisa G.; Jackson, Laird

    2013-01-01

    Background Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Methods Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. Results We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down’s syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. Conclusions In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.) PMID:23215555

  8. Chromosomal microarray versus karyotyping for prenatal diagnosis.

    PubMed

    Wapner, Ronald J; Martin, Christa Lese; Levy, Brynn; Ballif, Blake C; Eng, Christine M; Zachary, Julia M; Savage, Melissa; Platt, Lawrence D; Saltzman, Daniel; Grobman, William A; Klugman, Susan; Scholl, Thomas; Simpson, Joe Leigh; McCall, Kimberly; Aggarwal, Vimla S; Bunke, Brian; Nahum, Odelia; Patel, Ankita; Lamb, Allen N; Thom, Elizabeth A; Beaudet, Arthur L; Ledbetter, David H; Shaffer, Lisa G; Jackson, Laird

    2012-12-06

    Chromosomal microarray analysis has emerged as a primary diagnostic tool for the evaluation of developmental delay and structural malformations in children. We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis. Samples from women undergoing prenatal diagnosis at 29 centers were sent to a central karyotyping laboratory. Each sample was split in two; standard karyotyping was performed on one portion and the other was sent to one of four laboratories for chromosomal microarray. We enrolled a total of 4406 women. Indications for prenatal diagnosis were advanced maternal age (46.6%), abnormal result on Down's syndrome screening (18.8%), structural anomalies on ultrasonography (25.2%), and other indications (9.4%). In 4340 (98.8%) of the fetal samples, microarray analysis was successful; 87.9% of samples could be used without tissue culture. Microarray analysis of the 4282 nonmosaic samples identified all the aneuploidies and unbalanced rearrangements identified on karyotyping but did not identify balanced translocations and fetal triploidy. In samples with a normal karyotype, microarray analysis revealed clinically relevant deletions or duplications in 6.0% with a structural anomaly and in 1.7% of those whose indications were advanced maternal age or positive screening results. In the context of prenatal diagnostic testing, chromosomal microarray analysis identified additional, clinically significant cytogenetic information as compared with karyotyping and was equally efficacious in identifying aneuploidies and unbalanced rearrangements but did not identify balanced translocations and triploidies. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others; ClinicalTrials.gov number, NCT01279733.).

  9. Dermatoglyphics and Karyotype Analysis in Primary Amenorrhoea

    PubMed Central

    Sontakke, Bharat R; Waghmare, Jwalant E; Tarnekar, Aditya M; Shende, Moreshwar R; Pal, Asoke K

    2014-01-01

    Background: Dermatoglyphics is the scientific study of the skin ridge patterns on the fingers, toes, palms of the hands and soles of feet. Dermatoglyphics is in use as a supportive diagnostic tool in genetic or chromosomal disorders as well as in clinical conditions with genetic etiologies. Primary amenorrhoea and Dermatoglyphics, both have the suspected multifactorial (genetic and environmental) aetiologies. Objective: In the present study the finger dermatoglyphic patterns were studied in primary amenorrhoea cases and age matched fertile control females and also attention was given to find out whether a specific dermatoglyphic trait exists in primary amenorrhoea cases and whether it was statistically significant. Materials and Methods: To study the role of dermatoglyphics in primary amenorrhoea, a study was conducted on 30 subjects with primary amenorrhoea (as cases) and compared it with equal number of age matched fertile females (as controls). We studied fingertip patterns in all the subjects enrolled. Simultaneously we have assessed the Karyotype of primary amenorrhoea cases. Result and Conclusion: Two subjects in experimental group have shown abnormal Karyotypes. The most significant finding in present study was increased total finger ridge count (TFRC) in primary amenorrhoea cases which was statistically significant. We also found higher frequency of loops and arches in primary amenorrhoea with abnormal karyotypes. This type of study may be quite useful as a supportive investigation, in stating the predisposition of an individual to primary amenorrhoea and referral of an individual for karyotyping. PMID:25653930

  10. [Trisomy 21. Report of 2 cases with unusual karyotypes].

    PubMed

    Sánchez, O; de Marade, S; Guerra, D

    2001-03-01

    We report two patients with trisomy 21 whose karyotypes revealed unusual translocations. In the first case there was a tandem translocation with two chromosomes 21 attached to the long arm of chromosome 10 (45,XX + tan(10:21;21). In the second case there was an inverted tandem translocation between two chromosomes 21 attached through their long arms (46,XY + dic(21q:21q). The clinical picture in both patients was not different from the usually found in trisomy 21. Since the parent's karyotypes were normal in both cases, it is assumed that both translocations arose "de novo". The need for karyotyping all cases of Down syndrome is emphasized.

  11. Developing Visualization Support System for Teaching/Learning Database Normalization

    ERIC Educational Resources Information Center

    Folorunso, Olusegun; Akinwale, AdioTaofeek

    2010-01-01

    Purpose: In tertiary institution, some students find it hard to learn database design theory, in particular, database normalization. The purpose of this paper is to develop a visualization tool to give students an interactive hands-on experience in database normalization process. Design/methodology/approach: The model-view-controller architecture…

  12. Developing Visualization Support System for Teaching/Learning Database Normalization

    ERIC Educational Resources Information Center

    Folorunso, Olusegun; Akinwale, AdioTaofeek

    2010-01-01

    Purpose: In tertiary institution, some students find it hard to learn database design theory, in particular, database normalization. The purpose of this paper is to develop a visualization tool to give students an interactive hands-on experience in database normalization process. Design/methodology/approach: The model-view-controller architecture…

  13. [Molecular karyotyping of eukaryotic microorganisms].

    PubMed

    Nasonova, E S

    2012-01-01

    In many fungi and protists small size and weak morphological differentiation of chromosomes embarrass the study of karyotypes using microscopical tools. Molecular karyotyping based on the fractionation of intact chromosomal DNAs by pulsed field gel electrophoresis (PFGE) provides an alternative approach to the analysis of chromosomal sets in such organisms. To assign the bands observed in PFGE gel to the individual chromosomes the following methods of chromosome identification are applied: densitometric analysis of the bands; Southern hybridization with chromosome- and telomere-specific probes, which often is combined with comparative karyotyping of a series of strains with pronounced size polymorphism of chromosomes; comparison of the patterns of restriction fragments of chromosomal DNAs fractioned by KARD 2-D PFGE; comparison with the strains with well-studied interchromosomal rearrangements. Besides estimation of the number and the size of chromosomes, molecular karyotyping allows assessment of haploid genome size and ploidy level, study of genome dynamics, identification of chromosomal rearrangements and associated chromosomal polymorphism. The analysis of karyotype and dynamics of the genomes is important for the study of intra- and interspecial variability, investigation of the chromosome evolution in closely related species and elaboration of the models of speciation. The comparison of molecular karyotypes among isolates of different origin is of great practical importance for clinical diagnostics and for agricultural microbiology. In this review we discuss: 1) the methods of karyotyping and their application to the analysis of chromosomal sets in eukaryotic microorganisms; 2) the specificity of the methods used for extraction and fractionation of intact chromosomal DNAs; 3) the reasons for difficulties in interpretation of molecular karyotypes and the ways of their overcoming; 4) fields of application of molecular karyotyping; 5) the definition of

  14. Choroid plexus papilloma with a hyperdiploid karyotype

    SciTech Connect

    Roland, B.; Pinto, A.

    1994-09-01

    An 11-month-old male underwent surgery for a choroid plexus neoplasm, which on histologic examination was diagnosed as a benign papilloma. Chromosome analysis showed a karyotype of 55,XY,+7+7,+8,+9,+12,+12,+15,+20,+21 in all 20 metaphases analyzed. This is only the third benign choroid plexus papilloma that has been karyotyped, with the others being normal and hypodiploid (33 chromosomes). Three malignant choroid plexus carcinomas have also been analyzed, two with normal karyotypes and one hypodiploid (34 - 35 chromosomes). The two hypoidiploid neoplasms lack chromosomes 2, 3, 4, 5, 10, 13, 14, 17 and 18. Since the chromosomes that are lost in the hypodiploid neoplasms are different from the chromosomes gained in our tumor, it appears that the dosage of specific chromosomes is important in the origin of choroid plexus neoplasms. Benign choroid plexus papillomas can be difficult to differentiate from choroid plexus carcinomas. With the data available so far, it does not appear that cytogenetics can assist in making the diagnosis.

  15. Ire1 supports normal ER differentiation in developing Drosophila photoreceptors

    PubMed Central

    Xu, Zuyuan; Chikka, Madhusudana Rao; Xia, Hongai; Ready, Donald F.

    2016-01-01

    ABSTRACT The endoplasmic reticulum (ER) serves virtually all aspects of cell physiology and, by pathways that are incompletely understood, is dynamically remodeled to meet changing cell needs. Inositol-requiring enzyme 1 (Ire1), a conserved core protein of the unfolded protein response (UPR), participates in ER remodeling and is particularly required during the differentiation of cells devoted to intense secretory activity, so-called ‘professional’ secretory cells. Here, we characterize the role of Ire1 in ER differentiation in the developing Drosophila compound eye photoreceptors (R cells). As part of normal development, R cells take a turn as professional secretory cells with a massive secretory effort that builds the photosensitive membrane organelle, the rhabdomere. We find rough ER sheets proliferate as rhabdomere biogenesis culminates, and Ire1 is required for normal ER differentiation. Ire1 is active early in R cell development and is required in anticipation of peak biosynthesis. Without Ire1, the amount of rough ER sheets is strongly reduced and the extensive cortical ER network at the rhabdomere base, the subrhabdomere cisterna (SRC), fails. Instead, ER proliferates in persistent and ribosome-poor tubular tangles. A phase of Ire1 activity early in R cell development thus shapes dynamic ER. PMID:26787744

  16. Application of flow karyotyping in prenatal detection of chromosome aberrations.

    PubMed Central

    Gray, J W; Trask, B; van den Engh, G; Silva, A; Lozes, C; Grell, S; Schonberg, S; Yu, L C; Golbus, M S

    1988-01-01

    This paper describes the application of bivariate flow karyotyping to (1) classification of chromosomes isolated from cultures of cells taken by amniocentesis and (2) detection of numerical and structural aberrations. Chromosomes were isolated from primary cultures 2-5 wk after amniocentesis, stained with Hoechst 33258 and chromomycin A3, and analyzed using dual beam flow cytometry. Information about chromosome DNA content and DNA base composition was derived from the locations of the peaks in the flow karyotypes, each peak being produced by one or more chromosome types with similar DNA content and DNA base composition. Information about the relative frequency of each chromosome type was determined on the basis of the relative volume of the peak for that chromosome type. Cytogenetic information determined on the basis of flow karyotypes was compared with that obtained by visual analysis following G-banding. Variability among the peak means and volumes in flow karyotypes was determined from analyses of 50 normal amniocyte cultures. Numerical aberrations involving chromosomes 21, 18, and Y were detected correctly in all of 28 analyses, including eight in a blind study. Structural aberrations involving chromosomes 1, 2, 3, 6, 9-12, 13, 14, 15, 21, and 22 were detected in all of seven cultures in a blind study. Flow karyotypes proved to be insensitive to small, normally occurring chromosome polymorphisms detected by banding analysis. In addition, a few samples were erroneously scored as having numerical aberrations. PMID:3337112

  17. Immortality of cancers: a consequence of inherent karyotypic variations and selections for autonomy.

    PubMed

    Duesberg, Peter; McCormack, Amanda

    2013-03-01

    Immortality is a common characteristic of cancers, but its origin and purpose are still unclear. Here we advance a karyotypic theory of immortality based on the theory that carcinogenesis is a form of speciation. Accordingly, cancers are generated from normal cells by random karyotypic rearrangements and selection for cancer-specific reproductive autonomy. Since such rearrangements unbalance long-established mitosis genes, cancer karyotypes vary spontaneously but are stabilized perpetually by clonal selections for autonomy. To test this theory we have analyzed neoplastic clones, presumably immortalized by transfection with overexpressed telomerase or with SV40 tumor virus, for the predicted clonal yet flexible karyotypes. The following results were obtained: (1) All immortal tumorigenic lines from cells transfected with overexpressed telomerase had clonal and flexible karyotypes; (2) Searching for the origin of such karyotypes, we found spontaneously increasing, random aneuploidy in human fibroblasts early after transfection with overexpressed telomerase; (3) Late after transfection, new immortal tumorigenic clones with new clonal and flexible karyotypes were found; (4) Testing immortality of one clone during 848 unselected generations showed the chromosome number was stable, but the copy numbers of 36% of chromosomes drifted ± 1; (5) Independent immortal tumorigenic clones with individual, flexible karyotypes arose after individual latencies; (6) Immortal tumorigenic clones with new flexible karyotypes also arose late from cells of a telomerase-deficient mouse rendered aneuploid by SV40 virus. Because immortality and tumorigenicity: (1) correlated exactly with individual clonal but flexible karyotypes; (2) originated simultaneously with such karyotypes; and (3) arose in the absence of telomerase, we conclude that clonal and flexible karyotypes generate the immortality of cancers.

  18. Karyotype complexity and prognosis in acute myeloid leukemia.

    PubMed

    Stölzel, F; Mohr, B; Kramer, M; Oelschlägel, U; Bochtler, T; Berdel, W E; Kaufmann, M; Baldus, C D; Schäfer-Eckart, K; Stuhlmann, R; Einsele, H; Krause, S W; Serve, H; Hänel, M; Herbst, R; Neubauer, A; Sohlbach, K; Mayer, J; Middeke, J M; Platzbecker, U; Schaich, M; Krämer, A; Röllig, C; Schetelig, J; Bornhäuser, M; Ehninger, G

    2016-01-15

    A complex aberrant karyotype consisting of multiple unrelated cytogenetic abnormalities is associated with poor prognosis in patients with acute myeloid leukemia (AML). The European Leukemia Net classification and the UK Medical Research Council recommendation provide prognostic categories that differ in the definition of unbalanced aberrations as well as the number of single aberrations. The aim of this study on 3526 AML patients was to redefine and validate a cutoff for karyotype complexity in AML with regard to adverse prognosis. Our study demonstrated that (1) patients with a pure hyperdiploid karyotype have an adverse risk irrespective of the number of chromosomal gains, (2) patients with translocation t(9;11)(p21∼22;q23) have an intermediate risk independent of the number of additional aberrations, (3) patients with ⩾4 abnormalities have an adverse risk per se and (4) patients with three aberrations in the absence of abnormalities of strong influence (hyperdiploid karyotype, t(9;11)(p21∼22;q23), CBF-AML, unique adverse-risk aberrations) have borderline intermediate/adverse risk with a reduced overall survival compared with patients with a normal karyotype.

  19. Karyotype in secondary hematologic disorders after treatment for Hodgkin's disease. A study of 19 patients

    SciTech Connect

    Iurlo, A.; Mecucci, C.; Van Orshoven, A.; Michaux, J.L.; Boogaerts, M.; Van den Berghe, H.

    1988-12-01

    In 19 cases of secondary hematologic disorders in patients previously treated for Hodgkin's disease, chromosome aberrations were analyzed in relation to the type of previous chemo- and/or radiotherapy, age of the patients, histopathologic features of the Hodgkin's disease at diagnosis, time interval between the treatment and the occurrence of the secondary disorder, and survival. The karyotype was of significant prognostic value when three cytogenetic groups were considered: patients with normal karyotypes; patients with aberrations of chromosome 7 as the sole anomaly; and patients with complex rearrangements and translocations. The last group showed the lowest rate of survival. Bone marrow transplantation was successful in two patients with a normal karyotype.

  20. Morphological and karyotypic differences within and among populations of Radopholussimilis.

    PubMed

    Xu, Chun-Ling; Li, Yun; Xie, Hui; Huang, Xin; Wu, Wen-Jia; Yu, Lu; Wang, Dong-Wei

    2014-01-01

    Twenty populations of Radopholussimilis from three countries and different hosts (19 populations from ornamental plants and one population from ginger) were compared using morphological characters, morphometrics and karyotype between progeny from both single females and 30 females of each population. Morphological diversity existed in and among the populations, even within the progeny nematodes from single nematodes compared to that of 30 females. The labial disc shape, the number of head annuli, the terminated position of lateral lips, the number of genital papillae before cloacal apertures and female and male tail terminal shape showed variation. In addition, genital papillae arranged in a double row before cloacal apertures was first found in two ornamental populations. The karyotype of all the 20 populations was n = 5. Combining our results and previous studies, we support that Radopholuscitrophilus is a synonym of Radopholussimilis, and that it is not possible to distinguish physiological races or pathotypes of Radopholussimilis according to morphological characters or karyotype.

  1. Advanced Preparation and Positive Labor Support Create an Optimal Experience for Normal Birth

    PubMed Central

    Stark, Mary Ann; Jones, Marissa

    2006-01-01

    For women to be active participants in their labor care, preparation and labor support are crucial. Likewise, a supportive atmosphere during labor and birth can make all the difference in creating an optimal experience for normal birth. As described in this personal account, the benefits of childbirth education, a prepared spouse or partner, and continuous labor support of a doula, competent nurse, and a patient physician who endorse natural childbirth are credited with providing a satisfying normal-birth experience despite a long labor and posterior baby.

  2. Cytogenetics of bisexual/unisexual species of Poecilia. V. Unisexual poeciliids with anomalous karyotypes from northeastern Mexico.

    PubMed

    Sola, L; Rossi, A R; Bressanello, S; Rasch, E M; Monaco, P J

    1993-01-01

    Unisexual poeciliid fishes collected from two localities in the Soto la Marina drainage have been analyzed. Unisexual diploid and triploid specimens with anomalous karyotypes were found among karyotypically normal specimens. Chromosomal data are discussed in light of the origin of clonal diversity in unisexual/bisexual breeding complexes and with regard to the role of triploids in these breeding complexes.

  3. Towards a FISH-based karyotype of Rosa L. (Rosaceae)

    PubMed Central

    Kirov, Ilya V.; Van Laere, Katrijn; Van Roy, Nadine; Khrustaleva, Ludmila I.

    2016-01-01

    Abstract The genus Rosa Linnaeus, 1753 has important economic value in ornamental sector and many breeding activities are going on supported by molecular studies. However, the cytogenetic studies of rose species are scarce and mainly focused on chromosome counting and chromosome morphology-based karyotyping. Due to the small size of the chromosomes and a high frequency of polyploidy in the genus, karyotyping is very challenging for rose species and requires FISH-based cytogenetic markers to be applied. Therefore, in this work the aim is to establish a FISH-based karyotype for Rosa wichurana (Crépin, 1888), a rose species with several benefits for advanced molecular cytogenetic studies of genus Rosa (Kirov et al. 2015a). It is shown that FISH signals from 5S, 45S and an Arabidopsis-type telomeric repeat are distributed on five (1, 2, 4, 5 and 7) of seven chromosome pairs. In addition, it is demonstrated that the interstitial telomeric repeat sequences (ITR) are located in the centromeric regions of four chromosome pairs. Using low hybridization stringency for ITR visualization, we showed that the number of ITR signals increases four times (1–4 signals). This study is the first to propose a FISH-based Rosa wichurana karyotype for the reliable identification of chromosomes. The possible origin of Rosa wichurana ITR loci is discussed. PMID:28123677

  4. Karyotyping

    MedlinePlus

    ... to a genetic syndrome or condition, such as: Down syndrome Klinefelter syndrome Philadelphia chromosome Trisomy 18 Turner syndrome ... and the A.D.A.M. Editorial team. Down Syndrome Read more Genetic Disorders Read more Genetic Testing ...

  5. Weighted current sheets supported in normal and inverse configurations - A model for prominence observations

    NASA Technical Reports Server (NTRS)

    Demoulin, P.; Forbes, T. G.

    1992-01-01

    A technique which incorporates both photospheric and prominence magnetic field observations is used to analyze the magnetic support of solar prominences in two dimensions. The prominence is modeled by a mass-loaded current sheet which is supported against gravity by magnetic fields from a bipolar source in the photosphere and a massless line current in the corona. It is found that prominence support can be achieved in three different kinds of configurations: an arcade topology with a normal polarity; a helical topology with a normal polarity; and a helical topology with an inverse polarity. In all cases the important parameter is the variation of the horizontal component of the prominence field with height. Adding a line current external to the prominence eliminates the nonsupport problem which plagues virtually all previous prominence models with inverse polarity.

  6. Weighted current sheets supported in normal and inverse configurations - A model for prominence observations

    NASA Technical Reports Server (NTRS)

    Demoulin, P.; Forbes, T. G.

    1992-01-01

    A technique which incorporates both photospheric and prominence magnetic field observations is used to analyze the magnetic support of solar prominences in two dimensions. The prominence is modeled by a mass-loaded current sheet which is supported against gravity by magnetic fields from a bipolar source in the photosphere and a massless line current in the corona. It is found that prominence support can be achieved in three different kinds of configurations: an arcade topology with a normal polarity; a helical topology with a normal polarity; and a helical topology with an inverse polarity. In all cases the important parameter is the variation of the horizontal component of the prominence field with height. Adding a line current external to the prominence eliminates the nonsupport problem which plagues virtually all previous prominence models with inverse polarity.

  7. Swine chromosomal DNA quantification by bivariate flow karyotyping and karyotype interpretation.

    PubMed

    Schmitz, A; Chaput, B; Fouchet, P; Guilly, M N; Frelat, G; Vaiman, M

    1992-01-01

    Human and swine chromosomes were analyzed separately and as a mix to obtain bivariate flow karyotypes. They were normalized to each other in order to use the human chromosomal DNA content as standard. Our results led to the characterization of the "DNA line" in swine identical to the human "DNA line." Estimation of the DNA content in mega-base pairs of the swine chromosomes is proposed. Chromosomal assignment to the various resolved peaks on the bivariate swine flow karyotype is suggested from the relation between DNA content quantified by flow cytometry and chromosomal size. Swine chromosomes 1, 13, 6, 5, 10, 16, 11, 18, and Y were assigned to peaks A, B, C, K, L, N, O, Q, and Y, respectively. Peaks D and E were assumed to contain chromosomes 2 and 14, but without specific assignment. Similarly, P and M peaks were expected to correspond to chromosomes 12 and 17. Of the remaining chromosomes (3, 7, X, 8, 15, 9, and 4), chromosomes 3, 7, and X, which were assigned previously to peaks F, G, and H, respectively, led us to deduce that chromosomes 15 and 8 belonged to peaks I and J, and chromosomes 9, 4, and X to peak H.

  8. Karyotype Analysis Activity: A Constructivist Learning Design

    ERIC Educational Resources Information Center

    Ahmed, Noveera T.

    2015-01-01

    This classroom activity is based on a constructivist learning design and engages students in physically constructing a karyotype of three mock patients. Students then diagnose the chromosomal aneuploidy based on the karyotype, list the symptoms associated with the disorder, and discuss the implications of the diagnosis. This activity is targeted…

  9. Karyotype Analysis Activity: A Constructivist Learning Design

    ERIC Educational Resources Information Center

    Ahmed, Noveera T.

    2015-01-01

    This classroom activity is based on a constructivist learning design and engages students in physically constructing a karyotype of three mock patients. Students then diagnose the chromosomal aneuploidy based on the karyotype, list the symptoms associated with the disorder, and discuss the implications of the diagnosis. This activity is targeted…

  10. Quantitative karyotyping of human chromosomes by dual beam flow cytometry

    SciTech Connect

    Langlois, R.G.; Yu, L.C.; Gray, J.W.; Carrano, A.V.

    1982-12-01

    Dual beam flow cytometry of chromosomes stained with Hoechst 33258 and chromomycin A3 has been proposed as a method for quantitative classification of human chromosomes (bivariate flow karotyping). In this paper we investigate the sources and magnitudes of variability in the mean fluorescence intensities of each chromosome group resolved in bivariate flow karyotypes and study the impact of this variablity on chromosome classification. Replicate bivariate flow karyotypes of chromosomes isolated from lymphocyctes from 10 individuals demonstrated that person-to-person variability was significantly greater than run-to-run variability. The total variability was sufficiently small that it did not interfere with classification of normal chromosome types except chromosomes 9 through 12 and chromosomes 14 and 15. Furthermore, the variability was generally smaller than 1/600th of the mitotic genome, so that one-band rearrangements should be detectable in bivariate flow karoyotypes.

  11. Pig standard bivariate flow karyotype and peak assignment for chromosomes X, Y, 3, and 7.

    PubMed

    Schmitz, A; Chardon, P; Gainche, I; Chaput, B; Guilly, M N; Frelat, G; Vaiman, M

    1992-10-01

    A standard pig flow karyotype (2N = 38 chromosomes) was defined by standardization of several flow karyotypes obtained from stimulated peripheral blood lymphocytes of normal male and female pigs. Depending on the animals under study, the flow analysis of their chromosome suspensions gave rise to bivariate flow karyotypes comprising from 15 to 17 peaks, of which 11 to 15 represented single chromosomes. The results were used to propose a peak nomenclature. In addition, a male miniature pig lymphoblastoid cell line was characterized by flow cytogenetics. A very high-resolution flow karyotype, in which all peaks but one superimposed on those of the standard karyotype, was obtained. Peaks were assigned for chromosomes X and Y. Analysis of flow karyotypes obtained from translocated t(3,7)(p1.3;q2.1) pigs combined with polymerase chain reaction (PCR) studies of major histocompatibility complex (MHC)-linked sequences on flow-sorted chromosomes allowed identification of peaks 3 and 7 of normal pig chromosomes and of the derivative chromosomes associated with the t(3,7)(p1.3;q2.1) translocation.

  12. Munc18-1 mutations that strongly impair SNARE-complex binding support normal synaptic transmission.

    PubMed

    Meijer, Marieke; Burkhardt, Pawel; de Wit, Heidi; Toonen, Ruud F; Fasshauer, Dirk; Verhage, Matthijs

    2012-05-02

    Synaptic transmission depends critically on the Sec1p/Munc18 protein Munc18-1, but it is unclear whether Munc18-1 primarily operates as a integral part of the fusion machinery or has a more upstream role in fusion complex assembly. Here, we show that point mutations in Munc18-1 that interfere with binding to the free Syntaxin1a N-terminus and strongly impair binding to assembled SNARE complexes all support normal docking, priming and fusion of synaptic vesicles, and normal synaptic plasticity in munc18-1 null mutant neurons. These data support a prevailing role of Munc18-1 before/during SNARE-complex assembly, while its continued association to assembled SNARE complexes is dispensable for synaptic transmission.

  13. Munc18-1 mutations that strongly impair SNARE-complex binding support normal synaptic transmission

    PubMed Central

    Meijer, Marieke; Burkhardt, Pawel; de Wit, Heidi; Toonen, Ruud F; Fasshauer, Dirk; Verhage, Matthijs

    2012-01-01

    Synaptic transmission depends critically on the Sec1p/Munc18 protein Munc18-1, but it is unclear whether Munc18-1 primarily operates as a integral part of the fusion machinery or has a more upstream role in fusion complex assembly. Here, we show that point mutations in Munc18-1 that interfere with binding to the free Syntaxin1a N-terminus and strongly impair binding to assembled SNARE complexes all support normal docking, priming and fusion of synaptic vesicles, and normal synaptic plasticity in munc18-1 null mutant neurons. These data support a prevailing role of Munc18-1 before/during SNARE-complex assembly, while its continued association to assembled SNARE complexes is dispensable for synaptic transmission. PMID:22446389

  14. Subchromosomal karyotype evolution in Equidae.

    PubMed

    Musilova, P; Kubickova, S; Vahala, J; Rubes, J

    2013-04-01

    Equidae is a small family which comprises horses, African and Asiatic asses, and zebras. Despite equids having diverged quite recently, their karyotypes underwent rapid evolution which resulted in extensive differences among chromosome complements in respective species. Comparative mapping using whole-chromosome painting probes delineated genome-wide chromosome homologies among extant equids, enabling us to trace chromosome rearrangements that occurred during evolution. In the present study, we performed subchromosomal comparative mapping among seven Equidae species, representing the whole family. Region-specific painting and bacterial artificial chromosome probes were used to determine the orientation of evolutionarily conserved segments with respect to centromere positions. This allowed assessment of the configuration of all fusions occurring during the evolution of Equidae, as well as revealing discrepancies in centromere location caused by centromere repositioning or inversions. Our results indicate that the prevailing type of fusion in Equidae is centric fusion. Tandem fusions of the type telomere-telomere occur almost exclusively in the karyotype of Hartmann's zebra and are characteristic of this species' evolution. We revealed inversions in segments homologous to horse chromosomes 3p/10p and 13 in zebras and confirmed inversions in segments 4/31 in African ass, 7 in horse and 8p/20 in zebras. Furthermore, our mapping results suggested that centromere repositioning events occurred in segments homologous to horse chromosomes 7, 8q, 10p and 19 in the African ass and an element homologous to horse chromosome 16 in Asiatic asses. Centromere repositioning in chromosome 1 resulted in three different chromosome types occurring in extant species. Heterozygosity of the centromere position of this chromosome was observed in the kiang. Other subtle changes in centromere position were described in several evolutionary conserved chromosomal segments, suggesting that tiny

  15. Predicting fetal karyotype in fetuses with omphalocele: the current role of ultrasound

    PubMed Central

    Zork, Noelia M; Pierce, Sara; Zollinger, Terrell; Kominiarek, Michelle A

    2016-01-01

    Objective To assess the ability of ultrasound in predicting abnormal karyotype in pregnancies with prenatally diagnosed omphaloceles and to compare its test characteristics to previously published studies. Methods A retrospective case-control study of omphaloceles diagnosed at one center was performed from 1995–2007. Cases were those with an abnormal karyotype and controls were those with a normal karyotype. Data collection included demographics, karyotype results, and ultrasound findings. The number and type of associated anomalies were compared between the cases and controls. The sensitivity, specificity, positive predictive value, and negative predictive value for predicting an abnormal karyotype were calculated from previously published studies. Results Of the 73 subjects, there were 12 cases and 61 controls. The majority of women were Caucasian and primigravida. The cases were less likely to have an isolated omphalocele [1(8.3%) vs. 27(42.6%), OR 0.122 95% CI 0.02–0.08] but were more likely to have two or more major anomalies [8 (66.7%) vs. 17(27.9%), OR 5.18 95% CI 1.19–24.04)] compared to the controls. Cardiac anomalies and only one additional major anomaly were not different between the two groups, P>0.05. The test characteristics for this study were similar to previously published studies. Conclusions Isolated omphaloceles were more likely to have a normal karyotype; however fetuses with multiple anomalies were more likely to have an abnormal karyotype. Despite advances in ultrasound technology, its ability for predicting an abnormal karyotype in these fetuses has not improved. PMID:24815707

  16. Meiotic behaviour and sperm aneuploidy in an infertile man with a mosaic 45,X/46,XY karyotype.

    PubMed

    Ren, He; Chow, Victor; Ma, Sai

    2015-12-01

    The meiotic behaviour of the germ cells in 45,X/46,XY men has not been extensively studied. This study investigated the meiotic events and sperm aneuploidy in an azoospermic man with a 45,X/46,XY (50/50) mosaic karyotype to better understand the fate of the 45,X cells and the production of chromosomally abnormal spermatozoa. Combining immunofluorescence techniques and fluorescence in-situ hybridization, meiotic recombination, synapsis, meiotic sex chromosome inactivation (MSCI) and configuration were analysed, as well as sperm aneuploidy in the patient and 10 normal, fertile men. Despite the 50:50 somatic mosaicism in the patient, 25% of pachytene cells analysed were 45,X. Furthermore, 63% of pachytene cells were 46,XY with paired sex chromosomes, and 12% were 46,XY with unpaired sex chromosomes, which displayed abnormal MCSI patterns. Although the patient's testicular spermatozoa showed increased aneuploidy, the majority were of normal constitution. The X:Y sperm ratio was significantly increased compared with the controls (P < 0.001), which may indicate that some 45,X cells gave rise to X-bearing spermatozoa. The findings provide insight into the fate of 45,X/46,XY cells in meiosis, supporting the hypothesis that stringent checkpoints ensure the favourable production of spermatozoa with normal chromosomal constitution despite an individual's abnormal karyotype.

  17. Holokinetic centromeres and efficient telomere healing enable rapid karyotype evolution.

    PubMed

    Jankowska, Maja; Fuchs, Jörg; Klocke, Evelyn; Fojtová, Miloslava; Polanská, Pavla; Fajkus, Jiří; Schubert, Veit; Houben, Andreas

    2015-12-01

    Species with holocentric chromosomes are often characterized by a rapid karyotype evolution. In contrast to species with monocentric chromosomes where acentric fragments are lost during cell division, breakage of holocentric chromosomes creates fragments with normal centromere activity. To decipher the mechanism that allows holocentric species an accelerated karyotype evolution via chromosome breakage, we analyzed the chromosome complements of irradiated Luzula elegans plants. The resulting chromosomal fragments and rearranged chromosomes revealed holocentromere-typical CENH3 and histone H2AThr120ph signals as well as the same mitotic mobility like unfragmented chromosomes. Newly synthesized telomeres at break points become detectable 3 weeks after irradiation. The presence of active telomerase suggests a telomerase-based mechanism of chromosome healing. A successful transmission of holocentric chromosome fragments across different generations was found for most offspring of irradiated plants. Hence, a combination of holokinetic centromere activity and the fast formation of new telomeres at break points enables holocentric species a rapid karyotype evolution involving chromosome fissions and rearrangements.

  18. Karyotype analysis in Brachiaria (Poaceae) species.

    PubMed

    Bernini, C; Marin-Morales, M A

    2001-01-01

    This is the first karyotype characterization of Brachiaria species. Twelve accessions belonging to five species were analysed. The basic chromosome number was x = 9 and 7, the same reported for the tribe Paniceae. Variations in the chromosome number were observed in B. decumbens (2n = 18; 36) and B. humidicola (2n = 36; 42; 54). Chromosome numbers of 2n = 18 in B. ruziziensis and 2n = 36 in B. brizantha and B. jubata were recorded. Inter- and intraspecific karyotype differentiation of the accessions analysed was facilitated by variations in karyotypic symmetry. The karyotypes were generally considered symmetrical, with a tendency to asymmetry in the direction of the polyploids. It is suggested that addition, deletions and mainly polyploidy have been the most direct causes involved in the chromosome evolution of this genus.

  19. Immunosuppressive therapy in bone marrow aplasia: the stroma functions normally to support hematopoiesis.

    PubMed

    Novitzky, N; Jacobs, P

    1995-12-01

    In aplastic anemia (AA) patients responsive to antilymphocyte globulin (ALG) therapy, abnormalities in both stroma and progenitor cell (PC) pool have been described. The relevance of each pathophysiologic defect was characterized in 16 individuals, and data were compared to results from seven normal volunteers. Bone marrow mononuclear cells were split into two fractions. Stromal layers (SL) were prepared from the first, and a CD34+ enriched population was obtained by immunomagnetic selection from the second. In cross-culture experiments, 1 x 10(4) of the latter from patients or controls were seeded on preformed SL, and adhesive PC were scored for the formation of blast colonies (CFU-Bl) on day 5 of culture. Nonadherent progenitors were recovered and quantitated in a standard clonogenic assay (CFU-GM). There were significantly fewer CD34+ cells in the AA group (median 0.65%, SD 0.39%, vs. 1.62%, SD 1.4%; p = 0.002). No morphological or cytologic differences between normal and aplastic SL were detected. Both equally supported the growth of CFU-Bl from normal progenitors (mean 117, SD 20.4, and 103.1, SD 30.4), while this value was reduced for the aplastic PC (mean 41.06, SD 42.9; p = 0.0002, exact two-tailed test). Similarly, the AA nonadherent PC had a decreased CFU-GM growth (mean 142.6, SD 104.8, vs. mean 361.7; SD 91.3), with a lower total clonogenic output (p = 0.0009). We conclude that aplastic stroma appropriately supports the growth of normal progenitors, whereas the depressed clonogenicity of the corresponsing population derived from AA is unrelated to their attachment to SL but intrinsic to the CD34+ cells, whether adherent or not.

  20. Promoting, protecting, and supporting normal birth: a look at the evidence.

    PubMed

    Romano, Amy M; Lothian, Judith A

    2008-01-01

    Interfering with the normal physiological process of labor and birth in the absence of medical necessity increases the risk of complications for mother and baby. Six evidence-based care practices promote physiological birth: avoiding medically unnecessary induction of labor, allowing freedom of movement for the laboring woman, providing continuous labor support, avoiding routine interventions and restrictions, encouraging spontaneous pushing in nonsupine positions, and keeping mothers and babies together after birth without restrictions on breastfeeding. Nurses are in a unique position to provide these care practices and to help childbearing women make informed choices based on evidence.

  1. Adipose tissue supports normalization of macrophage and liver lipid handling in obesity reversal.

    PubMed

    Vatarescu, Maayan; Bechor, Sapir; Haim, Yulia; Pecht, Tal; Tarnovscki, Tanya; Slutsky, Noa; Nov, Ori; Shapiro, Hagit; Shemesh, Avishai; Porgador, Angel; Bashan, Nava; Rudich, Assaf

    2017-06-01

    Adipose tissue inflammation and dysfunction are considered central in the pathogenesis of obesity-related dysmetabolism, but their role in the rapid metabolic recovery upon obesity reversal is less well defined. We hypothesized that changes in adipose tissue endocrine and paracrine mechanisms may support the rapid improvement of obesity-induced impairment in cellular lipid handling. C57Bl-6J mice were fed ad libitum either normal chow (NC) or high-fat diet (HFF) for 10 weeks. A dietary obesity reversal group was fed HFF for 8 weeks and then switched to NC for 2 weeks (HFF→NC). Whole-body glucose homeostasis rapidly nearly normalized in the HFF→NC mice (fasting glucose and insulin fully normalized, glucose and insulin tolerance tests reversed 82% to the NC group levels). During 2 weeks of the dietary reversal, the liver was significantly cleared from ectopic fat, and functionally, glucose production from pyruvate, alanine or fructose was normalized. In contrast, adipose tissue inflammation (macrophage infiltration and polarization) largely remained as in HFF, though obesity-induced adipose tissue macrophage lipid accumulation decreased by ~50%, and adipose tissue MAP kinase hyperactivation was reversed. Ex vivo, mild changes in adipose tissue adipocytokine secretion profile were noted. These corresponded to partial or full reversal of the excess cellular lipid droplet accumulation induced by HFF adipose tissue conditioned media in hepatoma or macrophage cells, respectively. We propose that early after initiating reversal of nutritional obesity, rapid metabolic normalization largely precedes resolution of adipose tissue inflammation. Nevertheless, we demonstrate a hitherto unrecognized contribution of adipose tissue to the rapid improvement in lipid handling by the liver and by macrophages. © 2017 The authors.

  2. [Chronic myeloid leukemia. Karyotype changes].

    PubMed

    Rojas-Atencio, A; Pineda-Del Villar, L; Avila-León, E; González-Ferrer, S; Prieto-Carrasquero, M; Soto, M; González, R

    1996-09-01

    Chronic Myeloid Leukemia (CML) is a clonal disease of bone marrow, citogenetically characterized by the presence of the Philadelphia chromosome (Ph). Additional anomalies in the Ph cromosome have been found during the evolution of CML. This paper will show evidence of cytogenetic abnormalities during the evolution of CML in this region, and its correlation with clinical evolution. 55 samples of bone marrow, 81.3% (45/55) in chronic phase (CP), 12.7% (7/55) in an accelerated phase (AP), and 5.4% (3/55) in blastic phase (BP) were received. In 12/45 patients in CP the karyotype was repeated at least once a year during the evolution of their illness. 9/12 presented the Ph chromosome as a single anomaly at the moment of diagnosis; the other 3 presented a distinct anomaly. 4/9 presented additional abnormalities moving to the stages AP or BP between 4-8 months after initial discovery. 7/10 patients referred in AP or BP presented additional abnormalities in the Ph chromosome. It is evident that the chromosome study of each patient with CML must be carried out at least once a year in order to detect chromosomal abnormalities in addition to the Ph chromosome. Thus, a greater therapeutic control of the disease is possible.

  3. The relationship between clinical feature, complex immunophenotype, chromosome karyotype, and outcome of patients with acute myeloid leukemia in China.

    PubMed

    Ding, Bingjie; Zhou, Lanlan; Jiang, Xuejie; Li, Xiaodong; Zhong, Qingxiu; Wang, Zhixiang; Yi, Zhengshan; Zheng, Zhongxin; Yin, Changxin; Cao, Rui; Liao, Libin; Meng, Fanyi

    2015-01-01

    Mixed phenotype acute leukemia (MPAL) is a complex entity expressing both lymphoid and myeloid immunophenotyping. In the present study, 47 MPAL, 60 lymphoid antigen-positive acute myeloid leukemia (Ly(+)AML), and 90 acute myeloid leukemia with common myeloid immunophenotype (Ly(-)AML) patients were investigated. We found that, in MPAL patients, there were high proportions of blast cells in bone marrow and incidence of hepatosplenomegaly, lymphadenopathy, and Philadelphia chromosome. The overall survival (OS) and relapse-free survival (RFS) in MPAL patients were significantly shorter than those in Ly(+)AML and Ly(-)AML. With regard to the patients with normal karyotype only, the OS and RFS of MPAL were significantly lower than those of the Ly(+)AML and Ly(-)AML; but there were no significant differences in OS and RFS among the patients with complex karyotype. The OS rates of 3 groups with complex karyotype were lower than those of patients with normal karyotype. In Cox multivariate analysis, complex karyotype was an independent pejorative factor for both OS and RFS. Therefore, MPAL is confirmed to be a poor-risk disease while Ly(+)AML does not impact prognosis. Complex karyotype is an unfavorable prognosis factor in AML patients with different immunophenotype. Mixed immunophenotype and complex karyotype increase the adverse risk when they coexist.

  4. A chromosome painting test of the basal eutherian karyotype.

    PubMed

    Svartman, Marta; Stone, Gary; Page, John E; Stanyon, Roscoe

    2004-01-01

    We studied the chromosomes of an Afrotherian species, the short-eared elephant shrew Macroscelides proboscideus with traditional banding techniques and mapped the homology to human chromosomes by in-situ hybridization of human chromosome paints. Here we present for the first time the karyotype of this species, including banding patterns. The chromosome painting allowed us to test various hypotheses of the ancestral Eutherian karyotype, the validity of the radical taxonomic assemblage known as Afrotheria and the phylogenetic position of the elephant shrew within the Afrotheria. Current hypotheses concerning the Eutherian ancestral karyotype include diploid numbers ranging from 2n = 44 to 50 while molecular studies have proposed a new superordinal grouping of extant Eutherians. In particular, the Afrotheria is hotly debated, as it appears to be an odd mixture of species from Ungulata, Tubulidentata, Macroscelidea and Lipotyphla, which have no apparent morphological traits to unite them. The hybridization pattern delimited a total of 37 segments in the elephant shrew genome and revealed 21 different associations of human chromosome segments. Associations 1/19 and 5/21 link all Afrotheria so far studied and support the Afrotheria assemblage. Associations 2/8, 3/20, and 10/17 strongly link aardvarks and elephant shrews after the divergence of the line leading to elephants. The most likely ancestral Eutherian karyotype would be 2n = 48 chromosomes. However, the lack of comparative chromosome painting data between Eutherians and an appropriate outgroup is a severe limitation on attempts to delineate the ancestral genome of Eutherians. Current attempts lack legitimacy until this situation is corrected.

  5. Reconstruction of the ancestral marsupial karyotype from comparative gene maps

    PubMed Central

    2013-01-01

    Background The increasing number of assembled mammalian genomes makes it possible to compare genome organisation across mammalian lineages and reconstruct chromosomes of the ancestral marsupial and therian (marsupial and eutherian) mammals. However, the reconstruction of ancestral genomes requires genome assemblies to be anchored to chromosomes. The recently sequenced tammar wallaby (Macropus eugenii) genome was assembled into over 300,000 contigs. We previously devised an efficient strategy for mapping large evolutionarily conserved blocks in non-model mammals, and applied this to determine the arrangement of conserved blocks on all wallaby chromosomes, thereby permitting comparative maps to be constructed and resolve the long debated issue between a 2n = 14 and 2n = 22 ancestral marsupial karyotype. Results We identified large blocks of genes conserved between human and opossum, and mapped genes corresponding to the ends of these blocks by fluorescence in situ hybridization (FISH). A total of 242 genes was assigned to wallaby chromosomes in the present study, bringing the total number of genes mapped to 554 and making it the most densely cytogenetically mapped marsupial genome. We used these gene assignments to construct comparative maps between wallaby and opossum, which uncovered many intrachromosomal rearrangements, particularly for genes found on wallaby chromosomes X and 3. Expanding comparisons to include chicken and human permitted the putative ancestral marsupial (2n = 14) and therian mammal (2n = 19) karyotypes to be reconstructed. Conclusions Our physical mapping data for the tammar wallaby has uncovered the events shaping marsupial genomes and enabled us to predict the ancestral marsupial karyotype, supporting a 2n = 14 ancestor. Futhermore, our predicted therian ancestral karyotype has helped to understand the evolution of the ancestral eutherian genome. PMID:24261750

  6. Identification of Conversion from Normal Elderly Cognition to Alzheimer's Disease using Multimodal Support Vector Machine.

    PubMed

    Zhan, Ye; Chen, Kewei; Wu, Xia; Zhang, Daoqiang; Zhang, Jiacai; Yao, Li; Guo, Xiaojuan

    2015-01-01

    Alzheimer's disease (AD) is one of the most serious progressive neurodegenerative diseases among the elderly, therefore the identification of conversion to AD at the earlier stage has become a crucial issue. In this study, we applied multimodal support vector machine to identify the conversion from normal elderly cognition to mild cognitive impairment (MCI) or AD based on magnetic resonance imaging and positron emission tomography data. The participants included two independent cohorts (Training set: 121 AD patients and 120 normal controls (NC); Testing set: 20 NC converters and 20 NC non-converters) from the Alzheimer's Disease Neuroimaging Initiative (ADNI) database. The multimodal results showed that the accuracy, sensitivity, and specificity of the classification between NC converters and NC non-converters were 67.5% , 73.33% , and 64% , respectively. Furthermore, the classification results with feature selection increased to 70% accuracy, 75% sensitivity, and 66.67% specificity. The classification results using multimodal data are markedly superior to that using a single modality when we identified the conversion from NC to MCI or AD. The model built in this study of identifying the risk of normal elderly converting to MCI or AD will be helpful in clinical diagnosis and pathological research.

  7. The aneuploidy paradox: costs and benefits of an incorrect karyotype.

    PubMed

    Sheltzer, Jason M; Amon, Angelika

    2011-11-01

    Aneuploidy has a paradoxical effect on cell proliferation. In all normal cells analyzed to date, aneuploidy has been found to decrease the rate of cell proliferation. Yet, aneuploidy is also a hallmark of cancer, a disease of enhanced proliferative capacity, and aneuploid cells are frequently recovered following the experimental evolution of microorganisms. Thus, in certain contexts, aneuploidy might also have growth-advantageous properties. New models of aneuploidy and chromosomal instability have shed light on the diverse effects that karyotypic imbalances have on cellular phenotypes, and suggest novel ways of understanding the role of aneuploidy in development and disease.

  8. [Karyotyping and analysis of 5α -reductase-2 gene mutation in 25 patients with hypospadias].

    PubMed

    Yuan, Shimin; Zhong, Changgao; Li, Xiurong; Du, Juan; Li, Wen; Lu, Guangxiu; Tan, Yueqiu

    2017-04-10

    To analyze the karyotypes and SRD5A2 gene mutations in 25 patients with sporadic or familial hypospadias. The patients included 10 adults and 15 children, whose chromosomes were analyzed by G-banded karyotyping, and the SRD5A2 genes were sequenced. Two patients were found to have an abnormal karyotype, while eight have carried compound heterozygous mutations of the SRD5A2 gene, which included 5 genotypes formed by 6 types of mutations, i.e., p.G203S/p.R227Q, p.R227Q/p.R246Q, p.Q6X/p.Q71X, p.L20P/p.G203S, and p.Q71X/p.R227Q. Mutations of the SRD5A2 gene were present in 32% (8/25) of all patients, 35% (8/23) in those with a normal karyotype, and 44.4% (8/18) in those with proximal type hypospadia. Bioinformatic analysis, literature review and pedigree analysis confirmed that all such mutations are pathogenic. Chromosomal anomalies and mutations of the SRD5A2 gene are the main cause of hypospadias. Sequencing of the SRD5A2 gene may explain the etiology of nearly half of the patients with proximal type of hypospadas but a normal karyotype, which can facilitate genetic consulting.

  9. Mesenchymal stem cells as all-round supporters in a normal and neoplastic microenvironment.

    PubMed

    Hass, Ralf; Otte, Anna

    2012-09-03

    Mesenchymal stem cells (MSC) represent a heterogeneous population exhibiting stem cell-like properties which are distributed almost ubiquitously among perivascular niches of various human tissues and organs. Organismal requirements such as tissue damage determine interdisciplinary functions of resident MSC including self-renewal, migration and differentiation, whereby MSC support local tissue repair, angiogenesis and concomitant immunomodulation. However, growth of tumor cells and invasion also causes local tissue damage and injury which subsequently activates repair mechanisms and consequently, attracts MSC. Thereby, MSC exhibit a tissue-specific functional biodiversity which is mediated by direct cell-to-cell communication via adhesion molecule signaling and by a tightly regulated exchange of a multifactorial panel of cytokines, exosomes, and micro RNAs. Such interactions determine either tumor-promoting or tumor-inhibitory support by MSC. Moreover, fusion with necrotic/apoptotic tumor cell bodies contributes to re-program MSC into an aberrant phenotype also suggesting that tumor tissue in general represents different types of neoplastic cell populations including tumor-associated stem cell-like cells. The present work summarizes some functional characteristics and biodiversity of MSC and highlights certain controversial interactions with normal and tumorigenic cell populations, including associated modulations within the MSC microenvironment.

  10. Molecular karyotyping: from microscope to SNP arrays.

    PubMed

    Gijsbers, Antoinet C J; Ruivenkamp, Claudia A L

    2011-01-01

    Chromosomal rearrangements are an important cause of distinctive and recognizable clinical phenotypes. For many years conventional karyotyping has been a successful tool to detect such chromosomal rearrangements. However, this technique has a limited resolution of 5-10 Mb. In the past decades, the development of new high-resolution techniques has led to the field of molecular cytogenetics. One of the most significant changes has been the use of molecular karyotyping by high-resolution whole-genome array techniques in the diagnostic setting. This technology is able to detect chromosomal aberrations at a resolution beyond the detection level of conventional karyotyping. Many new microdeletion and microduplication syndromes have been identified by this new method. In this review, we will focus on the most commonly used (molecular) cytogenetic techniques. Copyright © 2011 S. Karger AG, Basel.

  11. Genetic assessment following increased nuchal translucency and normal karyotype.

    PubMed

    Pergament, Eugene; Alamillo, Christina; Sak, Katrin; Fiddler, Morris

    2011-03-01

    The objective of this study was to assess the first formal approach for monitoring genetic/developmental syndromes associated with the presence of an increased nuchal translucency (NT) thickness (>3 mm) in the first trimester of pregnancy. Multiple technologies-a DNA chip using the APEX technology, qPCR, microfluidic PCR, and sequencing-were applied to assay 310 mutations across five conditions-Noonan syndrome, congenital adrenal hyperplasia, spinal muscular atrophy (SMA), DiGeorge syndrome, and Smith-Lemli Opitz syndrome. We report the results of assessing the first 120 patients in which 8 cases of Noonan syndrome were detected as well as an unusually high rate of heterozygosity for SMA. While testing for Noonan syndrome in association with increased NT appears warranted, the reported association of the remaining four genetic syndromes is likely to be weak and possibly insignificant. Copyright © 2011 John Wiley & Sons, Ltd.

  12. Stored erythrocytes have less capacity than normal erythrocytes to support primary haemostasis.

    PubMed

    Reinhart, Walter H; Zehnder, Linda; Schulzki, Thomas

    2009-04-01

    Primary haemostasis is mediated by platelet aggregation. Red blood cells (RBCs) are involved in this process. We hypothesised that stored RBCs could have less capacity to support primary haemostasis. This was tested with RBC units from 17 healthy volunteers stored for 45 days. Fresh citrated blood was taken again from the same donors and platelet-rich plasma was prepared, in which RBCs were resuspended with a constant haematocrit (40%), but changing fractions of stored versus fresh autologous RBCs (0, 25, 50, 75, and 100%, respectively). A platelet function analyser PFA-100((R)) was used. In this instrument blood is aspirated through a membrane pore coated with collagen and either epinephrine (EPI) or ADP, which causes platelets to adhere, aggregate, and form an occluding plug, which stops blood flow and is measured as closure time (CT). We found that the CT increased with increasing fractions of stored blood. CT-EPI was 121 +/- 17 seconds [s], 129 +/- 32 s, 164 +/- 45 s (p < 0.000, ANOVA), 214 +/- 54 s (p < 0.0001), and 273 +/- 36 s (p < 0.0001) for 0, 25, 50, 75, and 100% stored RBCs. For CT-ADP the values were 91 +/- 22 s, 95 +/- 12 s, 101 +/- 13 s, 124 +/- 44 s (p = 0.004), and 191 +/- 72 s (p < 0.0001), respectively. We conclude that stored RBCs have less capacity than normal RBCs to support primary haemostasis by platelet aggregation in vitro, suggesting a decreased capacity of stored RBCs to bring platelets into close contact with the wall, which may contribute to sustained bleeding seen after mass transfusion.

  13. Molecular phylogeny and karyotype differentiation in Paratelmatobius and Scythrophrys (Anura, Leptodactylidae).

    PubMed

    Lourenço, L B; Bacci-Júnior, M; Martins, V G; Recco-Pimentel, S M; Haddad, C F B

    2008-03-01

    Paratelmatobius and Scythrophrys are leptodactylid frogs endemic to the Brazilian Atlantic forest and their close phylogenetic relationship was recently inferred in an analysis that included Paratelmatobius sp. and S. sawayae. To investigate the interspecific relationships among Paratelmatobius and Scythrophrys species, we analyzed a mitochondrial region (approximately 2.4 kb) that included the ribosomal genes 12S and 16S and the tRNAval in representatives of all known localities of these genera and in 54 other species. Maximum parsimony inferences were done using PAUP* and support for the clades was evaluated by bootstrapping. A cytogenetic analysis using Giemsa staining, C-banding and silver staining was also done for those populations of Paratelmatobius not included in previous cytogenetic studies of this genus in order to assess their karyotype differentiation. Our results suggested Paratelmatobius and Scythrophrys formed a clade strongly supported by bootstrapping, which corroborated their very close phylogenetic relationship. Among the Paratelmatobius species, two clades were identified and corroborated the groups P. mantiqueira and P. cardosoi previously proposed based on morphological characters. The karyotypes of Paratelmatobius sp. 2 and Paratelmatobius sp. 3 described here had diploid chromosome number 2n = 24 and showed many similarities with karyotypes of other Paratelmatobius representatives. The cytogenetic data and the phylogenetic analysis allowed the proposal/corroboration of several hypotheses for the karyotype differentiation within Paratelmatobius and Scythrophrys. Namely the telocentric pair No. 4 represented a synapomorphy of P. cardosoi and Paratelmatobius sp. 2, while chromosome pair No. 5 with interstitial C-bands could be interpreted as a synapomorphy of the P. cardosoi group. The NOR-bearing chromosome No. 10 in the karyotype of P. poecilogaster was considered homeologous to chromosome No. 10 in the karyotype of Scythrophrys sp

  14. Rapid aneuploidy detection or karyotyping? Ethical reflection

    PubMed Central

    de Jong, Antina; Dondorp, Wybo J; Timmermans, Daniëlle RM; van Lith, Jan MM; de Wert, Guido MWR

    2011-01-01

    No consensus exists whether women at increased risk for trisomy 21, 13, and 18 should be offered stand-alone rapid aneuploidy detection (RAD) or karyotyping. In this paper, the ethical implications of a fast, relatively cheap and targeted RAD are examined. The advantages of RAD seem less robust than its proponents suggest. Fast test results only give a short-term psychological benefit. The cost advantage of RAD is apparent, but must be weighed against consequences like missed abnormalities, which are evaluated differently by professionals and pregnant women. Since pre-test information about RAD will have to include telling women about karyotyping as a possible alternative, the advantage of RAD in terms of the quantity of information that needs to be given may also be smaller than suggested. We conclude that none of the supposed arguments in favour of RAD is decisive in itself. Whether the case for RAD may still be regarded as convincing when taking these arguments together seems to depend on one's implicit view of what prenatal screening is about. Are we basically dealing with a test for trisomy 21 and a few conditions more? Or are there good grounds for also testing for the wider range of abnormalities that karyotyping can detect? As professionals and pregnant women may have different views about this, we suggest that the best approach is to offer women a choice between RAD and karyotyping. This approach is most in line with the general aim of prenatal screening: providing opportunities for autonomous reproductive choice. PMID:21629296

  15. Rapid aneuploidy detection or karyotyping? Ethical reflection.

    PubMed

    de Jong, Antina; Dondorp, Wybo J; Timmermans, Daniëlle R M; van Lith, Jan M M; de Wert, Guido M W R

    2011-10-01

    No consensus exists whether women at increased risk for trisomy 21, 13, and 18 should be offered stand-alone rapid aneuploidy detection (RAD) or karyotyping. In this paper, the ethical implications of a fast, relatively cheap and targeted RAD are examined. The advantages of RAD seem less robust than its proponents suggest. Fast test results only give a short-term psychological benefit. The cost advantage of RAD is apparent, but must be weighed against consequences like missed abnormalities, which are evaluated differently by professionals and pregnant women. Since pre-test information about RAD will have to include telling women about karyotyping as a possible alternative, the advantage of RAD in terms of the quantity of information that needs to be given may also be smaller than suggested. We conclude that none of the supposed arguments in favour of RAD is decisive in itself. Whether the case for RAD may still be regarded as convincing when taking these arguments together seems to depend on one's implicit view of what prenatal screening is about. Are we basically dealing with a test for trisomy 21 and a few conditions more? Or are there good grounds for also testing for the wider range of abnormalities that karyotyping can detect? As professionals and pregnant women may have different views about this, we suggest that the best approach is to offer women a choice between RAD and karyotyping. This approach is most in line with the general aim of prenatal screening: providing opportunities for autonomous reproductive choice.

  16. Spectral karyotyping (SKY) in hematological neoplasia

    NASA Astrophysics Data System (ADS)

    Preiss, Birgitte S.; Pedersen, Rikke K.; Kerndrup, Gitte B.

    2001-07-01

    From November 1, 1997 till November 1, 2000 we have investigated 204 cases of acute myeloid leukemia (AML) (nequals95), acute lymphatic leukemia (ALL) (nequals40), myelodysplastic syndrome (MDS) (nequals11), chronic myeloid leukemia (CML) (nequals9), chronic lymphatic leukemia (CLL) (nequals4) and non-Hodgkin lymphoma (NHL) (nequals45) cytogenetically, using G-band analysis and spectral karyotyping (SKY). By SKY we were able to detect the abnormal clones in all cases but 9. In the G-band preparations these cases showed very few abnormal mitoses. The SKY either extended or confirmed the G-band findings in 94% of those with an abnormal karyotype. Cryptic translocations (translocations not suspected from the G-band karyotype) were found in 71 cases (26 AML, 9 ALL, 5 MDS, 2 CLL and 29 NHL). We find SKY a powerful adjuvant diagnostic tool that does not compromise one of the advantages of karyotyping techniques, the analysis of the entire genome which, in contrast to molecular biological techniques, still leave the possibility to get mroe answers than questions posed.

  17. 47,XYY karyotype in acute myeloid leukemia.

    PubMed

    Palanduz, S; Aktan, M; Ozturk, S; Tutkan, G; Cefle, K; Pekcelen, Y

    1998-10-01

    A case of acute myelomonocytic leukemia (AMMoL; M4) with a 47,XYY karyotype is reported. This chromosome aneuploidy was found in both bone marrow cells and mitogen-stimulated lymphocytes. The contribution of XYY chromosomal constitution in the pathogenesis of AMMoL is controversial.

  18. Investigation of human giardiasis by karyotype analysis.

    PubMed Central

    Korman, S H; Le Blancq, S M; Deckelbaum, R J; Van der Ploeg, L H

    1992-01-01

    The patterns of transmission of Giardia lamblia and the potential contribution of strain differences to pathogenicity of infection is poorly understood. We used pulsed field gradient gel electrophoresis (PFGE) to separate chromosome-sized DNA molecules of 22 stocks of G. lamblia isolated from 13 individuals (6 symptomatic, 7 asymptomatic) living in Jerusalem. PGFE gels run under a variety of conditions revealed up to nine ethidium bromide-stained bands per isolate ranging in size from 0.7 to greater than 3 megabasepairs. Relative staining intensities indicated that some bands contained multiple chromosomes. Major differences in the number, size, and intensity of bands allowed a clear differentiation of the karyotypes of isolates from each of the different individuals. This is in contrast to previous studies where the karyotype of different isolates have been strikingly homogeneous. Hybridization of Southern blots with surface antigen, beta-tubulin, and ribosomal RNA genes revealed that these gene families were distributed to different sized chromosomes amongst the different isolates. PFGE thus revealed major differences in the karyotypes of different G. lamblia isolates that were obtained over a short period of time from a relatively confined geographic area. In contrast, karyotypes of isolates established either by direct cultivation of duodenal trophozoites or by excystation of stool cysts from the same individuals were almost identical. Also, isolates from the same individuals obtained over a prolonged period of time revealed only minor differences in their karyotype, suggesting that recurrent infection can be caused by genetically similar organisms. We conclude that chronic giardiasis can result from recurrence of occult infection or reinfection from a common source. Images PMID:1601983

  19. Empowering change: realist evaluation of a Scottish Government programme to support normal birth.

    PubMed

    Cheyne, Helen; Abhyankar, Purva; McCourt, Christine

    2013-10-01

    midwife-led care has consistently been found to be safe and effective in reducing routine childbirth interventions and improving women's experience of care. Despite consistent UK policy support for maximising the role of the midwife as the lead care provider for women with healthy pregnancies, implementation has been inconsistent and the persistent use of routine interventions in labour has given rise to concern. In response the Scottish Government initiated Keeping Childbirth Natural and Dynamic (KCND), a maternity care programme that aimed to support normal birth by implementing multiprofessional care pathways and making midwife-led care for healthy pregnant women the national norm. the evaluation was informed by realist evaluation. It aimed to explore and explain the ways in which the KCND programme worked or did not work in different maternity care contexts. the evaluation was conducted in three phases. In phase one semi-structured interviews and focus groups were conducted with key informants to elicit the programme theory. At phase two, this theory was tested using a multiple case study approach. Semi-structured interviews and focus groups were conducted and a case record audit was undertaken. In the final phase the programme theory was refined through analyses and interpretation of the data. the setting for the evaluation was NHS Scotland. In phase one, 12 national programme stakeholders and 13 consultant midwives participated. In phase two case studies were undertaken in three health boards; overall 73 participants took part in interviews or focus groups. A case record audit was undertaken of all births in Scotland during one week in two consecutive years before and after pathway implementation. government and health board level commitment to, and support of, the programme signalled its importance and facilitated change. Consultant midwives tailored change strategies, using different approaches in response to the culture of care and inter

  20. [Clinical features of abnormal chromosome karyotypes in twin pregnancies complicated with structural abnormalities].

    PubMed

    Zhong, Shi-lin; Fang, Qun; Chen, Bao-jiang; Han, Zhen-yan; Luo, Yan-min; Chen, Jian-sheng; Xie, Ying-jun

    2011-09-01

    To investigate the clinical features of the abnormal chromosome karyotypes in twin pregnancies complicated with fetal malformations. Totally 181 twin pregnancies (362 fetuses) in which one or two fetuses had abnormalities diagnosed by ultrasound were referred to the First Affiliated Hospital of Sun Yat-Sen University from January, 2000 to September, 2010. They were divided into different groups according to (1) maternal age: the cases with maternal age ≥ 35 were divided into advanced pregnancy group (105 fetuses), and those with maternal age < 35 were divided into young pregnancy group (203 fetuses); (2) conceived method: those conceived by assisted reproductive technology were divided into assisted reproductive group (81 fetuses), and the natural conception pregnancies were divided into natural conception group (227 fetuses); (3) chorionicity: the monochorionic twin (MCT) pregnancies were divided into MCT group (123 fetuses), and the dichorionic twin (DCT) pregnancies were divided into DCT group (185 fetuses); (4) structural abnormalities: 205 fetuses with structural abnormalities were divided into the abnormal fetal group, and 103 fetuses without structural abnormalities were divided into the normal fetal group. All fetuses were examined by the ultrasound and chromosomes were examined in 308 fetuses. (1) The karyotype of fetuses: among 181 twin pregnancies, 23 cases had chromosomal abnormalities in 1 or 2 fetuses (12.7%, 23/181), and chromosomes were examined in both fetuses in 20 of 23 cases. Twenty-six of 308 fetuses were found with abnormal chromosomes (8.4%, 26/308), and the aneuploid was the most common type of abnormal karyotypes (53.8%, 14/26). Twenty-one of 205 fetuses with malformations were found with abnormal karyotypes (10.2%, 21/205). (2) Seven of 123 fetuses in MCT group were with abnormal karyotypes (5.7%, 7/123), and 19 of 185 fetuses in DCT group were with abnormal karyotypes (10.3%, 19/185). There was no statistical difference of abnormal

  1. Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report

    PubMed Central

    Gaillyova, Renata; Travnik, Pavel; Oracova, Eva; Vesela, Katerina; Hromadova, Lenka; Vesely, Jan; Musilova, Petra; Rubes, Jiri; Kadlecova, Jitka; Slamova, Iva; Makaturova, Eva; Vranova, Vladimira

    2010-01-01

    Purpose To report a case of monozygotic monochorial diamniotic twins with discordant karyotypes. Methods and results The pregnancy was achieved following a treatment cycle with intracytoplasmic sperm injection (ICSI) and preimplantation genetic screening (PGS) for chromosomes X, Y, 13, 16, 18, 21, 22. One embryo euploid for studied chromosomes was transferred. Prenatal ultrasonography revealed monozygotic twins. One fetus had growth retardation, multiple organ abnormalities and polyhydramnion. The other twin had normal ultrasound appearance. Delivery on week 29 of gestation resulted in the birth of two females, a stillborn twin with karyotype 45,XX,-13[12]/46,XX,r(13)[3] and a healthy twin with normal karyotype. Conclusions The discordance in the twins’ karyotypes originated from a mosaic embryo. Structural chromosomal abnormality of the affected twin could not be revealed using standard PGS investigation. Embryo splitting occurred probably due to apoptotic process in an early stage of embryo development. Apoptosis represents one of the possible mechanisms which can explain the embryo twinning process globally. PMID:20700760

  2. Transplant outcomes of the triple-negative NPM1/FLT3-ITD/CEBPA mutation subgroup are equivalent to those of the favourable ELN risk group, but significantly better than the intermediate-I risk group after allogeneic transplant in normal-karyotype AML.

    PubMed

    Ahn, Jae-Sook; Kim, Hyeoung-Joon; Kim, Yeo-Kyeoung; Jung, Sung-Hoon; Yang, Deok-Hwan; Lee, Je-Jung; Kim, Nan Young; Choi, Seung Hyun; Jung, Chul Won; Jang, Jun-Ho; Kim, Hee Je; Moon, Joon Ho; Sohn, Sang Kyun; Won, Jong-Ho; Kim, Sung-Hyun; Kim, Dennis Dong Hwan

    2016-03-01

    The prognostic significance of molecular mutations (FLT3-ITD, NPM1, and CEBPA mutations) was examined in patients with normal-karyotype acute myeloid leukaemia (NK-AML) after allogeneic haematopoietic cell transplantation (HCT). In total, 115 patients received allogeneic HCT for NK-AML and were evaluated for FLT3-ITD, NPM1, and CEBPA mutations in diagnostic samples and for long-term outcomes following HCT, retrospectively. The prevalences of FLT3-ITD(pos), NPM1 (mut), and CEBPA (dm) (double mutations) were 32.2, 43.5, and 24.6 %, respectively. The triple-negative group (NPM1 (wild)/FLT3-ITD(neg)/non-CEBPA (dm)) showed a similar transplant outcome to those in the favourable European LeukemiaNet (ELN) risk group for overall survival (OS) (60.9 vs. 63.7 %; p = 0.810), but a more favourable OS than others in the intermediate-I risk group (40.0 %; p = 0.034). Also, the triple-negative group showed a similar relapse rate at 5 years compared with those in the favourable risk group (9.7 vs. 15.5 %; p = 0.499), but a lower rate of relapse than the others in the intermediate-I risk group (15.5 vs. 48.6 %; p = 0.004). The 5-year relapse incidences were 4.0 % (NPM1 (mut)/FLT3-ITD(neg)), 14.7 % (CEBPA (dm)), 15.5 % (NPM1 (wild)/FLT3-ITD(neg)/non-CEBPA (dm)), 39.1 % (NPM1 (mut)/FLT3-ITD(pos)/non-CEBPA (dm)), and 66.7 % (NPM1 (wild)/FLT3-ITD(pos)/non-CEBPA (dm)). Thus, the triple-negative (NPM1 (wild)/FLT3-ITD(neg)/non-CEBPA (dm)) group showed favourable long-term outcomes after allogeneic HCT in NK-AML, similar to those of the favourable risk group by the ELN risk classification.

  3. Karyotype analysis of mithun (Bos frontalis) and mithun bull x Brahman cow hybrids.

    PubMed

    Qu, K-X; He, Z-X; Nie, W-H; Zhang, J-C; Jin, X-D; Yang, G-R; Yuan, X-P; Huang, B-Z; Zhang, Y-P; Zan, L-S

    2012-01-19

    We examined the cytogenetics of mithun (Bos frontalis), a domesticated version of the Asian gaur, and hybrids (F(1) generation) produced by artificial insemination of Brahman cows (Bos indicus) with mithun semen. Reproductive potential was also examined in the F(1) generation and a backcrossed heifer for utilization of heterosis. Metaphase chromosome spreads were examined by conventional staining and fluorescence in situ hybridization hybridized with the entire chromosome 1 of mithun as a specific probe. Chromosome 1 of mithun was found to be equivalent to Bos taurus chromosomes 2 and 28. The karyotype of the female mithun (N = 4) comprised 58 chromosomes, including 54 acrocentric and four large submetacentric chromosomes, without the four acrocentric chromosomes found in the domesticated species B. indicus. However, one of the four female mithuns with a normal mithun phenotype had an abnormal karyotype (2n = 59), indicating introgression from B. taurus or B. indicus. The F(1) karyotypes (N = 6, 3♂3♀) of the mithun bull × Brahman cow cross had 2n = 59, intermediate between their parents; they were consistent heterozygous carriers with a centric fusion involving rob(2;28), as expected. Two pronounced red signals were seen in the mithun karyotypes, three red signals in the mithun × Brahman hybrids, and four red signals in the Brahman cattle, in good agreement with centric fusion of bovine rob(2;28). The female backcross hybrid (N = 1) with 2n = 59 had a similar chromosome configuration to the F(1) karyotypes and had rob(2;28). Such female backcross hybrids normally reproduce; however, the F(1) bulls (N = 3) had not yet generated normal sperm at 24 months.

  4. Flow karyotyping and sorting of human chromosomes

    SciTech Connect

    Gray, J.W.; Lucas, J.; Peters, D.; Pinkel, D.; Trask, B.; van den Engh, G.; Van Dilla, M.A.

    1986-07-16

    Flow cytometry and sorting are becoming increasingly useful as tools for chromosome classfication and for the detection of numerical and structural chromosome aberrations. Chromosomes of a single type can be purified with these tools to facilitate gene mapping or production of chromosome specific recombinant DNA libraries. For analysis of chromosomes with flow cytometry, the chromosomes are extracted from mitotic cells, stained with one or more fluorescent dyes and classified one-by-one according to their dye content(s). Thus, the flow approach is fundamentally different than conventional karyotyping where chromosomes are classified within the context of a metaphase spread. Flow sorting allows purification of chromosomes that can be distinguished flow cytometrically. The authors describe the basic principles of flow cytometric chromosome classification i.e. flow karyotyping, and chromosome sorting and describe several applications. 30 refs., 8 figs.

  5. Multicolor Spectral Karyotyping of Human Chromosomes

    NASA Astrophysics Data System (ADS)

    Schrock, E.; Du Manoir, S.; Veldman, T.; Schoell, B.; Wienberg, J.; Ferguson-Smith, M. A.; Ning, Y.; Ledbetter, D. H.; Bar-Am, I.; Soenksen, D.; Garini, Y.; Ried, T.

    1996-07-01

    The simultaneous and unequivocal discernment of all human chromosomes in different colors would be of significant clinical and biologic importance. Whole-genome scanning by spectral karyotyping allowed instantaneous visualization of defined emission spectra for each human chromosome after fluorescence in situ hybridization. By means of computer separation (classification) of spectra, spectrally overlapping chromosome-specific DNA probes could be resolved, and all human chromosomes were simultaneously identified.

  6. Karyotype asymmetry in Cynodon Rich. (Poaceae) accessions.

    PubMed

    Chiavegatto, R B; Paula, C M P; Souza Sobrinho, F; Benites, F R G; Techio, V H

    2016-12-02

    Cynodon is a genus of plants with forage potential that has attracted the interest of breeders. These species have high morphological variability in a large number of varieties and cytotypes, hampering identification. This study aimed to determine the karyotype asymmetry index among accessions of Cynodon to discriminate between them. Karyotype symmetry was based on three estimates, which were compared. The basic number for the genus is x = 9. The results of the chromosome count and DNA quantification, respectively, were as follows: two diploid accessions (2n = 2x = 18 and 1.08 ± 0.094 to 1.17 ± 0.036 pg DNA and ± standard deviation), one triploid accession (2n = 3x = 27 and 1.63 ± 0.017 pg DNA), four tetraploid accessions (2n = 4x = 36 and 1.88 ± 0.069 to 2.10 ± 0.07 pg DNA), and one pentaploid accession (2n = 5x = 45 and 2.55 ± 0.098 pg DNA). C. incompletus var. hirsutus had the longest total length of the haploid lot (29.05 µm), with chromosomes that ranged from 1.7 to 6.2 µm in length. On the basis of the karyotype asymmetry indices, the accessions were divided into two groups: 1) C. dactylon var. dactylon, C. transvaalensis, C. dactylon var. polevansii, three accessions of Cynodon sp, and C. nlemfuensis; and 2) C. incompletus var. hirsutus. This is the first description of tetraploidy in C. transvaalensis. The karyotypic data facilitated a determination of the degree of proximity between the accessions.

  7. Dentofacial morphology in Turner syndrome karyotypes.

    PubMed

    Rizell, Sara

    2012-01-01

    The overall aim of this thesis was to study dentofacial morphology in Turner syndrome (TS) versus controls and the influence hereupon from karyotype. One hundred thirty two TS females (5-66 years of age), from Göteborg, Uppsala and Umeå were participating. Cephalometric analysis, cast model analysis concerning palatal height, dental arch morphology and dental crown width were performed. Eighteen primary teeth were analysed in polarized light microscopy, scanning electron microscopy, microradiography and X-ray microanalysis were performed. The TS females were divided according to karyotype into: 1 45,X; 2 45,X/46,XX; 3 isochromosome; 4 other. Compared to healthy females, TS were found to have a flattened cranial base as well as small and retrognathic jaws with a posterior inclination. The maxillary dentoalveolar arch was narrower and longer, while the mandibular dental arch was wider and longer in TS compared to controls. The palatal height did not differ comparing TS and healthy females. The dental crown width was smaller in TS for both permanent and primary teeth. Aberrant elemental composition, prism pattern and lower mineral density were found in TS primary enamel compared to enamel in primary teeth from healthy girls. Turner syndrome karyotype was found having an impact on craniofacial morphology, with the mosaic 45,X/46,XX exhibiting a milder mandibular retrognathism as well as fewer cephalometric variables differing from controls compared to other karyotypes. Also for the dentoalveolar arch morphology the 45,X/46,XX group had fewer variables differing from healthy females. The isochromosome TS group exhibited the smallest dental crown width for several teeth, while 45,X/46,XX hade the largest dental crown with for some teeth and fewer teeth than both 45,X and isochromosomes that differed from controls. Thus, the mosaic 45,X/46,XX seemed to exhibit a milder phenotype, possibly due to presence of healthy 46,XX cell lines.

  8. Children of parents with alcohol problems performing normality: A qualitative interview study about unmet needs for professional support

    PubMed Central

    Werner, Anne; Malterud, Kirsti

    2016-01-01

    Background Children of parents with alcohol problems are at risk for serious long-term health consequences. Knowledge is limited about how to recognize those in need of support and how to offer respectful services. Method From nine interviews with adult children from families with alcohol problems, we explored childhood experiences, emphasizing issues concerning potentially unmet needs for professional support. Smart's perspective on family secrets and Goffman's dramaturgical metaphor on social order of the family focusing on the social drama and the dramaturgy enacted by the children supported our cross-case thematic analysis. Findings The social interaction in the family was disrupted during childhood because of the parent's drinking problems. An everyday drama characterized by tension and threats, blame and manipulation was the backstage of their everyday life. Dealing with the drama, the children experienced limited parental support. Some children felt betrayed by the other parent who might trivialize the problems and excuse the drinking parent. Family activities and routines were disturbed, and uncertainty and insecurity was created. The children struggled to restore social order within the family and to act as normally as possible outside the family. It was a dilemma for the children to disclose the difficulties of the family. Conclusion Altogether, the children worked hard to perform a normally functioning family, managing a situation characterized by unmet needs for professional support. Adequate support requires recognition of the children's efforts to perform a normally functioning family. PMID:27104341

  9. Noninvasive Prenatal Molecular Karyotyping from Maternal Plasma

    PubMed Central

    Yu, Stephanie C. Y.; Jiang, Peiyong; Choy, Kwong W.; Chan, Kwan Chee Allen; Won, Hye-Sung; Leung, Wing C.; Lau, Elizabeth T.; Tang, Mary H. Y.; Leung, Tak Y.; Lo, Yuk Ming Dennis; Chiu, Rossa W. K.

    2013-01-01

    Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either polymorphism-dependent or used statistical analyses which were confined to one or a small number of selected parts of the genome. In this report, we reported a procedure for performing noninvasive prenatal karyotyping at 3 Mb resolution across the whole genome through the massively parallel sequencing of maternal plasma DNA. This method has been used to analyze the plasma obtained from 6 cases. In three cases, fetal microdeletions have been detected successfully from maternal plasma. In two cases, fetal microduplications have been detected successfully from maternal plasma. In the remaining case, the plasma DNA sequencing result was consistent with the pregnant mother being a carrier of a microduplication. Simulation analyses were performed for determining the number of plasma DNA molecules that would need to be sequenced and aligned for enhancing the diagnostic resolution of noninvasive prenatal karyotyping to 2 Mb and 1 Mb. In conclusion, noninvasive prenatal molecular karyotyping from maternal plasma by massively parallel sequencing is feasible and would enhance the diagnostic spectrum of noninvasive prenatal testing. PMID:23613765

  10. Noninvasive prenatal molecular karyotyping from maternal plasma.

    PubMed

    Yu, Stephanie C Y; Jiang, Peiyong; Choy, Kwong W; Chan, Kwan Chee Allen; Won, Hye-Sung; Leung, Wing C; Lau, Elizabeth T; Tang, Mary H Y; Leung, Tak Y; Lo, Yuk Ming Dennis; Chiu, Rossa W K

    2013-01-01

    Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either polymorphism-dependent or used statistical analyses which were confined to one or a small number of selected parts of the genome. In this report, we reported a procedure for performing noninvasive prenatal karyotyping at 3 Mb resolution across the whole genome through the massively parallel sequencing of maternal plasma DNA. This method has been used to analyze the plasma obtained from 6 cases. In three cases, fetal microdeletions have been detected successfully from maternal plasma. In two cases, fetal microduplications have been detected successfully from maternal plasma. In the remaining case, the plasma DNA sequencing result was consistent with the pregnant mother being a carrier of a microduplication. Simulation analyses were performed for determining the number of plasma DNA molecules that would need to be sequenced and aligned for enhancing the diagnostic resolution of noninvasive prenatal karyotyping to 2 Mb and 1 Mb. In conclusion, noninvasive prenatal molecular karyotyping from maternal plasma by massively parallel sequencing is feasible and would enhance the diagnostic spectrum of noninvasive prenatal testing.

  11. Pleuropulmonary blastoma: cytogenetic and spectral karyotype analysis.

    PubMed

    Taube, Janis M; Griffin, Constance A; Yonescu, Raluca; Morsberger, Laura; Argani, Pedram; Askin, Frederic B; Batista, Denise A S

    2006-01-01

    Pleuropulmonary blastoma (PPB) is a rare neoplasm of the pleuropulmonary mesenchyme. The molecular mechanisms underlying the genesis of this tumor are of particular interest as a large number of affected patients as well as their relatives have concurrent disease including additional dysplasia or neoplasia. To date, detailed karyotypes have been published on a limited number of cases. We report clinical, pathologic, and cytogenetic data in 2 cases of PPB including spectral karyotyping in 1 of them. Additionally, we conducted a review of the literature and compiled 15 published karyotypes of this tumor. Gain of chromosome 8 material was a highly prevalent finding in PPB, most times occurring as trisomy, but tetrasomy of the long arm was also frequent. Other occurring abnormalities, in order of observed frequency, included loss of 17p, loss of chromosome 10 or 10q, rearrangement of 11p, loss of chromosome X or Xp, gain of chromosomes/arms 1q, 2, and 7q, and loss of 6q and 18p. Loss of 10q has not been previously emphasized in PPB. The significance of these chromosome findings is discussed in relation to tumorigenesis.

  12. Karyotype analysis and ribosomal gene localization of spotted knifejaw Oplegnathus punctatus.

    PubMed

    Li, P Z; Cao, D D; Liu, X B; Wang, Y J; Yu, H Y; Li, X J; Zhang, Q Q; Wang, X B

    2016-12-23

    The spotted knifejaw, Oplegnathus punctatus, is an important aquaculture fish species in China. To better understand the chromosomal microstructure and the karyotypic origin of this species, cytogenetic analysis was performed using Giemsa staining to identify metaphase chromosomes, C-banding to detect C-positive heterochromatin, silver staining to identify the nucleolus organizer regions (Ag-NORs), and fluorescence in situ hybridization (FISH) for physical mapping of the major (18S rDNA) and minor (5S rDNA) ribosomal genes. The species showed a karyotype of 2n = 48 for females, composed of 2 submetacentric and 46 telocentric chromosomes, with a fundamental number (FN) = 50, while the karyotype of males was 2n = 47, composed of 1 exclusive large metacentric, 2 submetacentric, and 44 telocentric chromosomes, with FN = 50. These karyotype results suggest that O. punctatus might have an X1X1X2X2/X1X2Y multiple sex chromosome system. C-positive heterochromatin was distributed in the centromeres of all chromosomal pairs and in the terminal portions of some chromosomes. A single pair of Ag-positive NORs was found to be localized at the terminal regions of the short arms of the subtelocentric chromosome pair, which was supported by FISH of 18S rDNA. After FISH, 5S rDNA were located on the interstitial regions of the smallest telocentric chromosome pair. This study was the first to identify the karyotype of this species and will facilitate further research on karyotype evolution in the order Perciformes.

  13. Karyotype screening of potential sperm donors for artificial insemination.

    PubMed

    Pérez, M M; Marina, S; Egozcue, J

    1990-04-01

    Cytogenetic studies were carried out in 100 potential semen donors for artificial insemination (AI) before they underwent the routine procedures for acceptance or rejection into the programme, namely medical history, physical examination and blood and semen analyses. Results were only compared at the end of the study. In 80 cases, the karyotype was normal; 12 males showed polymorphic chromosome variants; seven had pericentric inversions of heterochromatic regions; one had a short inversion of chromosome 2; and in one case centromere fragility was observed. Six of the 12 males with normal variants were accepted into the programme and four of them had fathered from one to 13 normal children at the end of the study; the other six had been rejected, four of them because of abnormal seminograms, and another two because the motility control of the frozen semen was negative. Of the seven males with pericentric inversions, one dropped out of the programme; four were accepted and three of them had produced from two to five normal children at the end of the study; two had been rejected due to abnormal seminograms. The individual with centromere fragility was accepted and had produced four normal children at the end of the series. Our conclusion is that although cytogenetic studies of potential donors for AI would be desirable, routine screening for chromosome anomalies is not justified at present.

  14. A healthy, female chimera with 46,XX/46,XY karyotype.

    PubMed

    Binkhorst, Mathijs; de Leeuw, Nicole; Otten, Barto J

    2009-01-01

    We report a healthy and unambiguously female newborn, whose phenotypic sex contradicted the expected male sex based on previously performed prenatal cytogenetic analysis. Both 46,XX and 46,XY cells were detected in a villus sample, the former having been attributed to maternal cell contamination. Postnatal karyotyping in peripheral lymphocytes confirmed the presence of two cell lines, one 46,XX (70%) and one 46,XY (30%). After exclusion of alternative explanations for the observed genotype, a diagnosis of chimerism was made. Chimeras containing cell lines of opposite sex usually feature ovotesticular development with associated genital ambiguity. To account for the normal female appearance of our patient, we postulate the exclusive involvement of 46,XX cells in gonad formation.

  15. Physical Activity of Underweight, Normal Weight and Overweight Polish Adolescents: The Role of Classmate and Teacher Support in Physical Education

    ERIC Educational Resources Information Center

    Kantanista, Adam; Osinski, Wieslaw; Bronikowski, Michal; Tomczak, Maciej

    2013-01-01

    The aim of the study was to investigate the relationships of classmate and teacher support during physical education (PE) lessons on moderate-to-vigorous physical activity of 14-16 year-old students whom were underweight, normal weight and overweight. The cross-sectional sample for the study concerned data from 1702 girls and 1547 boys, recruited…

  16. Control-Group Feature Normalization for Multivariate Pattern Analysis of Structural MRI Data using the Support Vector Machine

    PubMed Central

    Linn, Kristin A.; Gaonkar, Bilwaj; Satterthwaite, Theodore D.; Doshi, Jimit; Davatzikos, Christos; Shinohara, Russell T.

    2016-01-01

    Normalization of feature vector values is a common practice in machine learning. Generally, each feature value is standardized to the unit hypercube or by normalizing to zero mean and unit variance. Classification decisions based on support vector machines (SVMs) or by other methods are sensitive to the specific normalization used on the features. In the context of multivariate pattern analysis using neuroimaging data, standardization effectively up- and down-weights features based on their individual variability. Since the standard approach uses the entire data set to guide the normalization, it utilizes the total variability of these features. This total variation is inevitably dependent on the amount of marginal separation between groups. Thus, such a normalization may attenuate the separability of the data in high dimensional space. In this work we propose an alternate approach that uses an estimate of the control-group standard deviation to normalize features before training. We study our proposed approach in the context of group classification using structural MRI data. We show that control-based normalization leads to better reproducibility of estimated multivariate disease patterns and improves the classifier performance in many cases. PMID:26915498

  17. The impact of rapid aneuploidy detection (RAD) in addition to karyotyping versus karyotyping on maternal quality of life.

    PubMed

    Boormans, E M A; Birnie, E; Oepkes, D; Bilardo, C M; Wildschut, H I J; Creemers, J; Bonsel, G J; van Lith, J M M

    2010-05-01

    To assess the impact of rapid aneuploidy detection (RAD) combined with fetal karyotyping versus karyotyping only on maternal anxiety and health-related quality of life. Women choosing to undergo amniocentesis were selected into group 1, i.e. receiving a karyotype result only (n = 132) or to group 2, i.e. receiving both the result of RAD and karyotyping (n = 181). There were no systematic differences in time of RAD combined with karyotyping versus karyotyping only in terms of anxiety (P = 0.91), generic physical health (P = 0.76, P = 0.46), generic mental health (P = 0.52, P = 0.72), personal perceived control (P = 0.91) and stress (P = 0.13). RAD combined with karyotyping reduced anxiety and stress two weeks earlier compared to karyotyping only. RAD as add-on to karyotyping reduces anxiety and stress in the short term but it does not influence overall anxiety, stress, personal perceived control, and generic mental and physical health when compared to a karyotype-only strategy.

  18. The application of an in situ karyotyping technique for mesenchymal stromal cells: a validation and comparison study with classical G-banding.

    PubMed

    Hwang, Sang Mee; See, Cha-Ja; Choi, Jungeun; Kim, Seon Young; Choi, Qute; Kim, Jung Ah; Kwon, Jiseok; Park, Si Nae; Im, Kyongok; Oh, Il-Hoan; Lee, Dong Soon

    2013-12-20

    The cytogenetic analysis of mesenchymal stromal cells (MSCs) is essential for verifying the safety and stability of MSCs. An in situ technique, which uses cells grown on coverslips for karyotyping and minimizes cell manipulation, is the standard protocol for the chromosome analysis of amniotic fluids. Therefore, we applied the in situ karyotyping technique in MSCs and compared the quality of metaphases and karyotyping results with classical G-banding and chromosomal abnormalities with fluorescence in situ hybridization (FISH). Human adipose- and umbilical cord-derived MSC cell lines (American Type Culture Collection PCS-500-011, PCS-500-010) were used for evaluation. The quality of metaphases was assessed by analyzing the chromosome numbers in each metaphase, the overlaps of chromosomes and the mean length of chromosome 1. FISH was performed in the interphase nuclei of MSCs for 6q, 7q and 17q abnormalities and for the enumeration of chromosomes via oligo-FISH in adipose-derived MSCs. The number of chromosomes in each metaphase was more variable in classical G-banding. The overlap of chromosomes and the mean length of chromosome 1 as observed via in situ karyotyping were comparable to those of classical G-banding (P=0.218 and 0.674, respectively). Classical G-banding and in situ karyotyping by two personnel showed normal karyotypes for both cell lines in five passages. No numerical or structural chromosomal abnormalities were found by the interphase-FISH. In situ karyotyping showed equivalent karyotype results, and the quality of the metaphases was not inferior to classical G-banding. Thus, in situ karyotyping with minimized cell manipulation and the use of less cells would be useful for karyotyping MSCs.

  19. The application of an in situ karyotyping technique for mesenchymal stromal cells: a validation and comparison study with classical G-banding

    PubMed Central

    Hwang, Sang Mee; See, Cha-ja; Choi, Jungeun; Kim, Seon Young; Choi, Qute; Kim, Jung Ah; Kwon, Jiseok; Park, Si Nae; Im, Kyongok; Oh, Il-Hoan; Lee, Dong Soon

    2013-01-01

    The cytogenetic analysis of mesenchymal stromal cells (MSCs) is essential for verifying the safety and stability of MSCs. An in situ technique, which uses cells grown on coverslips for karyotyping and minimizes cell manipulation, is the standard protocol for the chromosome analysis of amniotic fluids. Therefore, we applied the in situ karyotyping technique in MSCs and compared the quality of metaphases and karyotyping results with classical G-banding and chromosomal abnormalities with fluorescence in situ hybridization (FISH). Human adipose- and umbilical cord-derived MSC cell lines (American Type Culture Collection PCS-500-011, PCS-500-010) were used for evaluation. The quality of metaphases was assessed by analyzing the chromosome numbers in each metaphase, the overlaps of chromosomes and the mean length of chromosome 1. FISH was performed in the interphase nuclei of MSCs for 6q, 7q and 17q abnormalities and for the enumeration of chromosomes via oligo-FISH in adipose-derived MSCs. The number of chromosomes in each metaphase was more variable in classical G-banding. The overlap of chromosomes and the mean length of chromosome 1 as observed via in situ karyotyping were comparable to those of classical G-banding (P=0.218 and 0.674, respectively). Classical G-banding and in situ karyotyping by two personnel showed normal karyotypes for both cell lines in five passages. No numerical or structural chromosomal abnormalities were found by the interphase-FISH. In situ karyotyping showed equivalent karyotype results, and the quality of the metaphases was not inferior to classical G-banding. Thus, in situ karyotyping with minimized cell manipulation and the use of less cells would be useful for karyotyping MSCs. PMID:24357832

  20. Normal forms for sub-Lorentzian metrics supported on Engel type distributions

    NASA Astrophysics Data System (ADS)

    Grochowski, Marek

    2014-06-01

    We construct normal forms for Lorentzian metrics on Engel distributions under the assumption that abnormal curves are timelike future directed Hamiltonian geodesics. Then we indicate some cases in which the abnormal timelike future directed curve initiating at the origin is geometrically optimal. We also give certain estimates for reachable sets from a point.

  1. Stability of thin-shell wormholes supported by normal matter in Einstein-Maxwell-Gauss-Bonnet gravity

    SciTech Connect

    Mazharimousavi, S. Habib; Halilsoy, M.; Amirabi, Z.

    2010-05-15

    Recently in [Phys. Rev. D 76, 087502 (2007) and Phys. Rev. D 77, 089903 (2008)] a thin-shell wormhole has been introduced in five-dimensional Einstein-Maxwell-Gauss-Bonnet gravity which was supported by normal matter. We wish to consider this solution and investigate its stability. Our analysis shows that for the Gauss-Bonnet parameter {alpha}<0, stability regions form for a narrow band of finely tuned mass and charge. For the case {alpha}>0, we iterate once more that no stable, normal matter thin-shell wormhole exists.

  2. Karyotype and identification of sex in two endangered crane species

    USGS Publications Warehouse

    Goodpasture, C.; Seluja, G.; Gee, G.; Wood, Don A.

    1992-01-01

    A laboratory procedure for sex identification of monomorphic birds was developed using modern cytological methods of detecting chromosome abnormalities in human amniotic fluid samples. A pin feather is taken from a pre-fledging bird for tissue culture and karyotype analysis. Through this method, the sex was identified and the karyotype described of the whooping crane (Grus americana) and the Mississippi sandhill crane (G. canadensis pulla). Giemsa-stained karyotypes of these species showed an identical chromosome constitution with 2n = 78 + 2. However, differences in the amount of centromeric heterochromatin were observed in the Mississippi sandhill crane when compared to the whooping crane C-banded karyotype.

  3. Individual karyotypes at the origins of cervical carcinomas.

    PubMed

    McCormack, Amanda; Fan, Jiang Lan; Duesberg, Max; Bloomfield, Mathew; Fiala, Christian; Duesberg, Peter

    2013-10-17

    In 1952 Papanicolaou et al. first diagnosed and graded cervical carcinomas based on individual "abnormal DNA contents" and cellular phenotypes. Surprisingly current papilloma virus and mutation theories of carcinomas do not mention these individualities. The viral theory holds that randomly integrated, defective genomes of papilloma viruses, which are often untranscribed, cause cervical carcinomas with unknown cofactors 20-50 years after infection. Virus-free carcinomas are attributed to mutations of a few tumor-suppressor genes, especially the p53 gene. But the paradox of how a few mutations or latent defective viral DNAs would generate carcinomas with endless individual DNA contents, degrees of malignancies and cellular phenotypes is unsolved. Since speciation predicts individuality, we test here the theory that cancers are autonomous species with individual clonal karyotypes and phenotypes. This theory postulates that carcinogens induce aneuploidy. By unbalancing mitosis genes aneuploidy catalyzes chain reactions of karyotypic evolutions. Most such evolutions end with non-viable karyotypes but a few become new cancer karyotypes. Despite congenitally unbalanced mitosis genes cancer karyotypes are stabilized by clonal selections for cancer-specific autonomy. To test the prediction of the speciation theory that individual carcinomas have individual clonal karyotypes and phenotypes, we have analyzed here the phenotypes and karyotypes of nine cervical carcinomas. Seven of these contained papilloma virus sequences and two did not. We determined phenotypic individuality and clonality based on the morphology and sociology of carcinoma cells in vitro. Karyotypic individuality and clonality were determined by comparing all chromosomes of 20 karyotypes of carcinomas in three-dimensional arrays. Such arrays list chromosome numbers on the x-axis, chromosome copy numbers on the y-axis and the number of karyotypes arrayed on the z-axis. We found (1) individual clonal

  4. Microsatellite repeat instability: Comparison of molecular lesions with tumor karyotype

    SciTech Connect

    Worsham, M.J.; Benninger, M.S.; Zarbo, R.J.

    1994-09-01

    Microsatellite repeat (MR) instability (MRI) (expansion or contraction of one or both alleles) has been observed in hereditary nonpolyposis colon cancer, gastric cancers, non-small cell lung, endometrial, breast and bladder cancers, and occasionally in squamous cell carcinomas in the head and neck region (SCCHN). Of 44 SCCHN studied for loss of heterozygosity (LOH) at MR loci, only HFH-SCC-20 exhibited extensive MRI. Tumor HFH-SCC-20 was a T4N3MO deeply invasive, poorly differentiated SCCHN of the right tonsillar fossa and base of tongue. The tumor karyotypes obtained from early cultures (7 and 10 day harvests) were: 46,XY,del(3)(p11p24),+i(5p),del(11)(q14q25),del(13)(q13),del(14)(q21),der(16)t(16,21)(q11;q21),-21[9]/92,idemx2[3], with net loss of the chromosomal segments 3p11-p24, 11q14-q25, 13q13-qter, 14q21-qter,16q11-qter, and 21pter-q21. The patient`s constitutional karyotype was 46,XY. Tumor and normal lymphocyte DNA from this patient were compared using 20 MRs on 3p, 5q, 8p, 9p, 9q, 18q, and 21q. The results were informative at 19 MR loci: 14 had MR1, two had LOH, and 3 retained heterozygosity. Expansion of one allele was observed at 10 MR loci and of both alleles at the D9S200 locus, D9S199 and D21S11 exhibited expansion of one allele and contraction of the other; and D8S897 exhibited LOH with expansion of the remaining allele. The LOH at the L1B3-15CA locus (at 3p21), and the absence of LOH at loci on 5q, 9p, 18q, and 21q are consistent with the karyotypic interpretation. LOH for the ABL (9q34) and D8S87 (8p22-cen) suggests that a submicroscopic deletion or other genetic change occurred at these loci. The pattern of genomic and cytogenetic alteration in HFH-SCC-20 indicates that (1) MR1 is not associated with visible cytogenetic alterations at the same site, (2) MR1 is the primary mechanism of mutation in some SCCHN tumors, and (3) patterns of MR1 and LOH will provide clues for tumor behavior and evolution.

  5. Monochorionic twins with the same blood karyotype of 46,XY/47,XYY but different phenotypes.

    PubMed

    Wuttikonsammakit, Piyawadee; Tanawattanacharoen, Somchai; Uerpairojkit, Boonchai

    2010-02-01

    We report the case of a 13-year-old woman who was pregnant with phenotypically discordant monochorionic twins: one with cystic hygroma and hydrops, the other one normal. Fetal blood sampling was performed by intrahepatic blood collection for karyotyping of both fetuses, revealing the same genotype of 46,XY/47,XYY in 2:1 proportion. Phenotypic discordance in monozygotic twins can have various causes, such as placental vascular anatomy, differences in allocation of the number of blastomeres or genetic postzygotic events.

  6. Rates of karyotypic evolution in Estrildid finches differ between island and continental clades.

    PubMed

    Hooper, Daniel M; Price, Trevor D

    2015-04-01

    Reasons why chromosomal rearrangements spread to fixation and frequently distinguish related taxa remain poorly understood. We used cytological descriptions of karyotype to identify large pericentric inversions between species of Estrildid finches (family Estrildidae) and a time-dated phylogeny to assess the genomic, geographic, and phylogenetic context of karyotype evolution in this group. Inversions between finch species fixed at an average rate of one every 2.26 My. Inversions were twice as likely to fix on the sex chromosomes compared to the autosomes. A high repeat density on the sex chromosomes may increase mutation rates, but other explanations via mutagenic input are not supported, as the number of inversions on a chromosome does not correlate with its length or map size. Inversions have fixed 3.3× faster in three continental clades than in two island chain clades, and fixation rate correlates with both range size and the number of sympatric species pairs. These results point to adaptation as the dominant mechanism driving fixation and suggest a role for gene flow in karyotype divergence. A review shows that the rapid karyotype evolution observed in the Estrildid finches appears to be more general across birds, and by implication other understudied taxa. © 2015 The Author(s).

  7. Finding Your New Normal: Outcomes of a Wellness-Oriented Psychoeducational Support Group for Cancer Survivors

    ERIC Educational Resources Information Center

    Shannonhouse, Laura; Myers, Jane; Barden, Sejal; Clarke, Philip; Weimann, Rochelle; Forti, Allison; Moore-Painter, Terry; Knutson, Tami; Porter, Michael

    2014-01-01

    Group interventions have been useful for survivors to overcome the challenges of cancer. This study employed a pre/post, mixed-methods design to explore the influence of an 8-week support group on the holistic wellness of 14 breast cancer survivors. Pairing experiential activities with wellness-centered psychoeducation was viewed positively by…

  8. "But Is It a Normal Thing?" Teenage Mothers' Experiences of Breastfeeding Promotion and Support

    ERIC Educational Resources Information Center

    Condon, L.; Rhodes, C.; Warren, S.; Withall, J.; Tapp, A.

    2013-01-01

    Aim: To explore teenagers experiences of the breastfeeding promotion and support delivered by health professionals. Design: A qualitative study conducted in an English city. Methods: Pregnant teenagers and teenage mothers (n = 29) took part in semi-structured interviews and focus groups between March and July 2009. Results: Breastfeeding is…

  9. Finding Your New Normal: Outcomes of a Wellness-Oriented Psychoeducational Support Group for Cancer Survivors

    ERIC Educational Resources Information Center

    Shannonhouse, Laura; Myers, Jane; Barden, Sejal; Clarke, Philip; Weimann, Rochelle; Forti, Allison; Moore-Painter, Terry; Knutson, Tami; Porter, Michael

    2014-01-01

    Group interventions have been useful for survivors to overcome the challenges of cancer. This study employed a pre/post, mixed-methods design to explore the influence of an 8-week support group on the holistic wellness of 14 breast cancer survivors. Pairing experiential activities with wellness-centered psychoeducation was viewed positively by…

  10. "But Is It a Normal Thing?" Teenage Mothers' Experiences of Breastfeeding Promotion and Support

    ERIC Educational Resources Information Center

    Condon, L.; Rhodes, C.; Warren, S.; Withall, J.; Tapp, A.

    2013-01-01

    Aim: To explore teenagers experiences of the breastfeeding promotion and support delivered by health professionals. Design: A qualitative study conducted in an English city. Methods: Pregnant teenagers and teenage mothers (n = 29) took part in semi-structured interviews and focus groups between March and July 2009. Results: Breastfeeding is…

  11. Karyotype Differentiation between Two Stickleback Species (Gasterosteidae)

    PubMed Central

    Urton, J.R.; McCann, S.R.; Peichel, C.L.

    2011-01-01

    The stickleback family (Gasterosteidae) of fish is less than 40 million years old, yet stickleback species have diverged in both diploid chromosome number (2n) and morphology. We used comparative fluorescence in situ hybridization (FISH) on 2 stickleback species, Gasterosteus aculeatus (2n = 42) and Apeltes quadracus (2n = 46), to ascertain the types of chromosome rearrangements that differentiate these species. The A. quadracus karyotype contains more acrocentric and telocentric chromosomes than the G. aculeatus karyotype. By using bacterial artificial chromosome probes from G. aculeatus in our FISH screen, we found that 6 pericentric inversions and 2 chromosome fusions/fissions are responsible for the greater number of acrocentric and telocentric chromosomes in A. quadracus. While most populations of G. aculeatus have an XX/XY sex chromosome system, A. quadracus has a ZZ/ZW sex chromosome system, as previously reported. However, we discovered that a population of A. quadracus from Connecticut lacks heteromorphic sex chromosomes, providing evidence for unexpected sex chromosome diversity in this species. PMID:21921583

  12. Multiplex ligation-dependent probe amplification assay identifies additional copy number changes compared with R-band karyotype and provide more accuracy prognostic information in myelodysplastic syndromes

    PubMed Central

    Xu, Zefeng; Zhang, Yue; Liu, Jinqin; Li, Bing; Fang, Liwei; Zhang, Hongli; Pan, Lijuan; Hu, Naibo; Qu, Shiqiang; Cai, Wenyu; Ru, Kun; Jia, Yujiao; Huang, Gang; Xiao, Zhijian

    2017-01-01

    Cytogenetic analysis provides important diagnostic and prognostic information for patients with Myelodysplastic syndromes (MDS) and plays an essential role in the International Prognostic Scoring System (IPSS) and the revised International Prognostic Scoring System (IPSS-R). Multiplex ligation-dependent probe amplification (MLPA) assay is a recently developed technique to identify targeted cytogenetic aberrations in MDS patients. In the present study, we evaluated the results obtained using an MLPA assay in 437 patients with MDS to determine the efficacy of MLPA analysis. Using R-banding karyotyping, 45% (197/437) of MDS patients had chromosomal abnormalities, whereas MLPA analysis detected that 35% (153/437) of MDS cases contained at least one copy-number variations (CNVs) .2/5 individuals (40%) with R-band karyotype failures had trisomy 8 detected using only MLPA. Clonal cytogenetic abnormalities were detected in 20/235 (8.5%) MDS patients with a normal R-band karyotype, and 12/20 (60%) of those patients were reclassified into a higher-risk IPSS-R prognostic category. When sequencing and cytogenetics were combined, the fraction of patients with MDS-related oncogenic lesions increased to 87.3% (233/267 cases). MLPA analysis determined that the median OS of patients with a normal karyotype (n=218) was 65 months compared with 27 months in cases with an aberrant karyotype (P=0.002) in 240 patients with normal or failed karyotypes by R-banding karyotyping. The high-resolution MPLA assay is an efficient and reliable method that can be used in conjunction with R-band karyotyping to detect chromosomal abnormalities in patients with suspected MDS. MLPA may also provide more accurate prognostic information. PMID:27906673

  13. -dimensional thin shell wormhole with deformed throat can be supported by normal matter

    NASA Astrophysics Data System (ADS)

    Mazharimousavi, S. Habib; Halilsoy, M.

    2015-06-01

    From the physics standpoint the exotic matter problem is a major difficulty in thin shell wormholes (TSWs) with spherical/cylindrical throat topologies. We aim to circumvent this handicap by considering angle dependent throats in dimensions. By considering the throat of the TSW to be deformed spherical, i.e., a function of and , we present general conditions which are to be satisfied by the shape of the throat in order to have the wormhole supported by matter with positive density in the static reference frame. We provide particular solutions/examples to the constraint conditions.

  14. Exploring Contemporary Issues in Genetics & Society: Karyotyping, Biological Sex, & Gender

    ERIC Educational Resources Information Center

    Brown, Julie C.

    2013-01-01

    In this two-part activity, high school biology students examine human karyotyping, sex-chromosome-linked disorders, and the relationship between biological sex and gender. Through interactive simulations and a structured discussion lab, students create a human karyotype and diagnose chromosomal disorders in hypothetical patients, as well as…

  15. Exploring Contemporary Issues in Genetics & Society: Karyotyping, Biological Sex, & Gender

    ERIC Educational Resources Information Center

    Brown, Julie C.

    2013-01-01

    In this two-part activity, high school biology students examine human karyotyping, sex-chromosome-linked disorders, and the relationship between biological sex and gender. Through interactive simulations and a structured discussion lab, students create a human karyotype and diagnose chromosomal disorders in hypothetical patients, as well as…

  16. Pregnancy complicated by triploidy: a comparison of the three karyotypes.

    PubMed

    McWeeney, Dennis T; Munné, Santiago; Miller, Richard C; Cekleniak, Natalie A; Contag, Stephen A; Wax, Joseph R; Polzin, William J; Watson, William J

    2009-10-01

    We evaluated triploid pregnancy to determine whether there are clinically important differences between the three karyotypes: 69,XXX, 69,XXY, and 69,XYY. Prospectively maintained cytogenetic databases at five tertiary care centers were retrospectively reviewed over a 10-year period to identify all triploid pregnancies. Targeted ultrasounds were reviewed to identify fetal and placental findings. Sonographic findings were compared by karyotype. There was a total of 549 triploid gestations; preimplantation genetic diagnosis (PGD) detected 413 triploid embryos, and the cytogenetic databases provided 136 clinical pregnancies with triploidy. In triploid embryos with PGD, the frequency of the 69,XYY karyotype was 8.7% (36/413), compared with 0.74% (1/136) during the first trimester of clinical pregnancies (p = 0.002). In clinical pregnancies, 60% (36/60) of 69,XXY fetuses survived the first trimester of development compared with 69% (52/75) of 69,XXX fetuses (p = NS). No clinically important differences were observed between 69,XXX and 69,XXY karyotypes in terms of type, number, or severity of fetal or placental anomalies. Gestations with a 69,XYY karyotype are found less frequently compared with gestations with a 69,XXX or 69,XXY karyotype. The decline in fetal survival of the 69,XYY triploid karyotype needs further investigation. There are significant abnormalities detected during prenatal sonography in most all clinically recognized cases of triploidy. Sonography cannot reliably distinguish between the 69,XXY and 69,XXX karyotypes.

  17. Shift and adapt: the costs and benefits of karyotype variations

    PubMed Central

    Gerstein, Aleeza C.; Berman, Judith

    2015-01-01

    Variation is the spice of life or, in the case of evolution, variation is the necessary material on which selection can act to enable adaptation. Karyotypic variation in ploidy (the number of homologous chromosome sets) and aneuploidy (imbalance in the number of chromosomes) are fundamentally different than other types of genomic variants. Karyotypic variation emerges through different molecular mechanisms than other mutational events, and unlike mutations that alter the genome at the base pair level, rapid reversion to the wild type chromosome number is often possible. Although karyotypic variation has long been noted and discussed by biologists, interest in the importance of karyotypic variants in evolutionary processes has spiked in recent years, and much remains to be discovered about how karyotypic variants are produced and subsequently selected. PMID:26321163

  18. Species-specific shifts in centromere sequence composition are coincident with breakpoint reuse in karyotypically divergent lineages

    PubMed Central

    Bulazel, Kira V; Ferreri, Gianni C; Eldridge, Mark DB; O'Neill, Rachel J

    2007-01-01

    Background It has been hypothesized that rapid divergence in centromere sequences accompanies rapid karyotypic change during speciation. However, the reuse of breakpoints coincident with centromeres in the evolution of divergent karyotypes poses a potential paradox. In distantly related species where the same centromere breakpoints are used in the independent derivation of karyotypes, centromere-specific sequences may undergo convergent evolution rather than rapid sequence divergence. To determine whether centromere sequence composition follows the phylogenetic history of species evolution or patterns of convergent breakpoint reuse through chromosome evolution, we examined the phylogenetic trajectory of centromere sequences within a group of karyotypically diverse mammals, macropodine marsupials (wallabies, wallaroos and kangaroos). Results The evolution of three classes of centromere sequences across nine species within the genus Macropus (including Wallabia) were compared with the phylogenetic history of a mitochondrial gene, Cytochrome b (Cyt b), a nuclear gene, selenocysteine tRNA (TRSP), and the chromosomal histories of the syntenic blocks that define the different karyotype arrangements. Convergent contraction or expansion of predominant satellites is found to accompany specific karyotype rearrangements. The phylogenetic history of these centromere sequences includes the convergence of centromere composition in divergent species through convergent breakpoint reuse between syntenic blocks. Conclusion These data support the 'library hypothesis' of centromere evolution within this genus as each species possesses all three satellites yet each species has experienced differential expansion and contraction of individual classes. Thus, we have identified a correlation between the evolution of centromere satellite sequences, the reuse of syntenic breakpoints, and karyotype convergence in the context of a gene-based phylogeny. PMID:17708770

  19. Karyotype characterization of in vivo- and in vitro-derived porcine parthenogenetic cell lines.

    PubMed

    Liu, Qiang; Zhang, Manling; Hou, Dongxia; Han, Xuejie; Jin, Yong; Zhao, Lihua; Nie, Xiaowei; Zhou, Xin; Yun, Ting; Zhao, Yuhang; Huang, Xianghua; Hou, Daorong; Yang, Ning; Wu, Zhaoqiang; Li, Xueling; Li, Rongfeng

    2014-01-01

    Mammalian haploid cell lines provide useful tools for both genetic studies and transgenic animal production. To derive porcine haploid cells, three sets of experiments were conducted. First, genomes of blastomeres from 8-cell to 16-cell porcine parthenogenetically activated (PA) embryos were examined by chromosome spread analysis. An intact haploid genome was maintained by 48.15% of blastomeres. Based on this result, two major approaches for amplifying the haploid cell population were tested. First, embryonic stem-like (ES-like) cells were cultured from PA blastocyst stage embryos, and second, fetal fibroblasts from implanted day 30 PA fetuses were cultured. A total of six ES-like cell lines were derived from PA blastocysts. No chromosome spread with exactly 19 chromosomes (the normal haploid complement) was found. Four cell lines showed a tendency to develop to polyploidy (more than 38 chromosomes). The karyotypes of the fetal fibroblasts showed different abnormalities. Cells with 19-38 chromosomes were the predominant karyotype (59.48-60.91%). The diploid cells were the second most observed karyotype (16.17%-22.73%). Although a low percentage (3.45-8.33%) of cells with 19 chromosomes were detected in 18.52% of the fetus-derived cell lines, these cells were not authentic haploid cells since they exhibited random losses or gains of some chromosomes. The haploid fibroblasts were not efficiently enriched via flow cytometry sorting. On the contrary, the diploid cells were efficiently enriched. The enriched parthenogenetic diploid cells showed normal karyotypes and expressed paternally imprinted genes at extremely low levels. We concluded that only a limited number of authentic haploid cells could be obtained from porcine cleavage-stage parthenogenetic embryos. Unlike mouse, the karyotype of porcine PA embryo-derived haploid cells is not stable, long-term culture of parthenogenetic embryos, either in vivo or in vitro, resulted in abnormal karyotypes. The porcine PA

  20. The relationship between growth in agar, karyotype and prognosis in acute leukaemia.

    PubMed

    Gustavsson, A; Mitelman, F; Olofsson, T; Olsson, I

    1984-04-01

    The growth pattern in agar culture and the karyotype of bone marrow cells were studied in 79 patients with untreated acute non-lymphocytic leukaemia (ANLL). Results were divided into the following groups: (A) colony and cluster formation; (B) growth of less than 600 small clusters per 10(5) cells; (C) growth of more than 600 small clusters; (D) no growth in agar. Cytogenetically, the patients were divided into 3 categories: NN, normal metaphases only; AN, both abnormal and normal metaphases and AA, abnormal metaphases only. An association was seen between growth pattern and karyotype: the majority of NN patients (33/37) belonged to group (A + B) while in group (C + D) 20/24 patients were AN or AA. 37 patients were prognostically evaluable. The growth pattern in agar but not the cytogenetic pattern had prognostic implications. 25 patients with acute lymphocytic leukaemia (ALL) were also studied at diagnosis. Different growth patterns in agar had no impact on prognosis. No relationship was detected between growth pattern and karyotype in ALL.

  1. Application of normal pulse voltammetry to the kinetic study of formic acid oxidation on a carbon supported Pd electrocatalyst

    NASA Astrophysics Data System (ADS)

    Wang, Yujiao; Wu, Xiaochen; Wu, Bing; Gao, Ying

    The kinetic parameters of formic acid oxidation on a carbon supported Pd electrode, such as the charge transfer coefficient (α) and apparent diffusion coefficient (D) are obtained by applying the technique of normal pulse voltammetry. The standard rate constant (k 0) of formic acid oxidation on a Pd/C electrode is estimated. The results show that formic acid oxidation is more sensitive to temperature at relatively high potential because the activation energy is significantly increased as the potential rose above 0.6 V.

  2. Preferential accumulation of sex and Bs chromosomes in biarmed karyotypes by meiotic drive and rates of chromosomal changes in fishes.

    PubMed

    Molina, Wagner F; Martinez, Pablo A; Bertollo, Luiz A C; Bidau, Claudio J

    2014-12-01

    Mechanisms of accumulation based on typical centromeric drive or of chromosomes carrying pericentric inversions are adjusted to the general karyotype differentiation in the principal Actinopterygii orders. Here, we show that meiotic drive in fish is also supported by preferential establishment of sex chromosome systems and B chromosomes in orders with predominantly bi-brachial chromosomes. The mosaic of trends acting at an infra-familiar level in fish could be explained as the interaction of the directional process of meiotic drive as background, modulated on a smaller scale by adaptive factors or specific karyotypic properties of each group, as proposed for the orthoselection model.

  3. Congenital heart disease and chromossomopathies detected by the karyotype

    PubMed Central

    Trevisan, Patrícia; Rosa, Rafael Fabiano M.; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G.

    2014-01-01

    OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome). These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky. CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype. PMID:25119760

  4. Karyotype diversity and genome size variation in Neotropical Maxillariinae orchids.

    PubMed

    Moraes, A P; Koehler, S; Cabral, J S; Gomes, S S L; Viccini, L F; Barros, F; Felix, L P; Guerra, M; Forni-Martins, E R

    2017-03-01

    Orchidaceae is a widely distributed plant family with very diverse vegetative and floral morphology, and such variability is also reflected in their karyotypes. However, since only a low proportion of Orchidaceae has been analysed for chromosome data, greater diversity may await to be unveiled. Here we analyse both genome size (GS) and karyotype in two subtribes recently included in the broadened Maxillariinea to detect how much chromosome and GS variation there is in these groups and to evaluate which genome rearrangements are involved in the species evolution. To do so, the GS (14 species), the karyotype - based on chromosome number, heterochromatic banding and 5S and 45S rDNA localisation (18 species) - was characterised and analysed along with published data using phylogenetic approaches. The GS presented a high phylogenetic correlation and it was related to morphological groups in Bifrenaria (larger plants - higher GS). The two largest GS found among genera were caused by different mechanisms: polyploidy in Bifrenaria tyrianthina and accumulation of repetitive DNA in Scuticaria hadwenii. The chromosome number variability was caused mainly through descending dysploidy, and x=20 was estimated as the base chromosome number. Combining GS and karyotype data with molecular phylogeny, our data provide a more complete scenario of the karyotype evolution in Maxillariinae orchids, allowing us to suggest, besides dysploidy, that inversions and transposable elements as two mechanisms involved in the karyotype evolution. Such karyotype modifications could be associated with niche changes that occurred during species evolution.

  5. Divergent karyotypes of the annual killifish genus Nothobranchius (Cyprinodontiformes, Nothobranchiidae)

    PubMed Central

    Krysanov, Eugene; Demidova, Tatiana; Nagy, Bela

    2016-01-01

    Abstract Karyotypes of two species of the African annual killifish genus Nothobranchius Peters, 1868, Nothobranchius brieni Poll, 1938 and Nothobranchius sp. from Kasenga (D.R. Congo) are described. Both species displayed diploid chromosome number 2n = 49/50 for males and females respectively with multiple-sex chromosome system type X1X2Y/X1X1X2X2. The karyotypes of studied species are considerably different from those previously reported for the genus Nothobranchius and similar to the Actinopterygii conservative karyotype. PMID:27830051

  6. Reciprocal chromosome painting among human, aardvark, and elephant (superorder Afrotheria) reveals the likely eutherian ancestral karyotype.

    PubMed

    Yang, F; Alkalaeva, E Z; Perelman, P L; Pardini, A T; Harrison, W R; O'Brien, P C M; Fu, B; Graphodatsky, A S; Ferguson-Smith, M A; Robinson, T J

    2003-02-04

    The Afrotheria, a supraordinal grouping of mammals whose radiation is rooted in Africa, is strongly supported by DNA sequence data but not by their disparate anatomical features. We have used flow-sorted human, aardvark, and African elephant chromosome painting probes and applied reciprocal painting schemes to representatives of two of the Afrotherian orders, the Tubulidentata (aardvark) and Proboscidea (elephants), in an attempt to shed additional light on the evolutionary affinities of this enigmatic group of mammals. Although we have not yet found any unique cytogenetic signatures that support the monophyly of the Afrotheria, embedded within the aardvark genome we find the strongest evidence yet of a mammalian ancestral karyotype comprising 2n = 44. This karyotype includes nine chromosomes that show complete conserved synteny to those of man, six that show conservation as single chromosome arms or blocks in the human karyotype but that occur on two different chromosomes in the ancestor, and seven neighbor-joining combinations (i.e., the synteny is maintained in the majority of species of the orders studied so far, but which corresponds to two chromosomes in humans). The comparative chromosome maps presented between human and these Afrotherian species provide further insight into mammalian genome organization and comparative genomic data for the Afrotheria, one of the four major evolutionary clades postulated for the Eutheria.

  7. The clinical utility of conventional karyotyping in the detection of cytogenetic abnormalities in soft tissue tumours: an Asian institutional experience.

    PubMed

    Tien, Justin D Y; Lau, L C; Tien, S L; Tan, M H

    2014-10-01

    To assess the clinical utility of conventional karyotyping as a diagnostic tool in soft tissue tumours amidst the increasing use of molecular cytogenetics. Case series. Singapore General Hospital, an Asian institution. A total of 35 participants (18 male and 17 female) aged 15 to 81 years were included in this study. Conventional karyotyping of 35 consecutive fresh soft tissue tumour specimens was performed over 4 years and the results were analysed. Of the 35 cases of soft tissue tumours reviewed, chromosome abnormalities were detected in 22 (63%) cases, 11 (31%) showed a normal karyotype, and 2 (6%) had culture failure. Of the 22 cases with abnormal karyotype, nine (41%) cases showed recurring aberrations: Ewing's sarcomas (n=2), desmoplastic small round cell tumour (n=1), synovial sarcomas (n=3), myxoid liposarcomas (n=2), and lipoma (n=1). One lipoma case had a t(2;12)(q23;q15) in which 2q23 breakpoint was not reported before. Chromosomal aberration involving 12q15 breakpoint has been shown in a previous study to be indicative of a lipoma-like liposarcoma. Another lipoma case had addition of 5q15 and 9p13 together with a balanced aberration of t(12;13) (q13;q12) which were novel aberrations. One synovial sarcoma case showed t(3;7)(q21;p13) which was an uncharacteristic aberration. Conventional karyotyping demonstrated utility as a genome-wide screening tool for soft tissue tumours and an adjunct diagnostic tool in the event histopathology results were doubtful. With the more widespread use of karyotyping, novel recurring chromosomal aberrations may be discovered.

  8. Down-regulation of GPX3 is associated with favorable/intermediate karyotypes in de novo acute myeloid leukemia.

    PubMed

    Zhou, Jing-Dong; Wen, Xiang-Mei; Zhang, Ying-Ying; Yang, Lei; Ma, Yu-Juan; Ma, Ji-Chun; Yang, Jing; Guo, Hong; Yao, Dong-Ming; Lin, Jiang; Qian, Jun

    2015-01-01

    Decreased glutathione peroxidase 3 (GPX3) expression has been identified in numerous solid tumors. However, GPX3 expression pattern in acute myeloid leukemia (AML) remains poorly known. Our study was intended to explore GPX3 expression status and further analyze the clinical relevance of GPX3 expression in AML. GPX3 mRNA level was detected by real-time quantitative PCR in 122 de novo AML patients and 44 normal controls. GPX3 transcript level was significantly decreased compared with normal controls (P<0.001). The patients with low GPX3 expression had significantly higher hemoglobin and platelets than those with high GPX3 expression (P=0.049 and 0.020). The frequency of low GPX3 expression in favorable karyotype (66%, 23/35) and intermediate karyotype (65%, 45/69) was higher than in poor karyotype (29%, 4/14) (P=0.017). No significant differences were observed in both complete remission and overall survival between the GPX3 low-expressed and high-expressed patients (P>0.05). Reduced GPX3 expression is associated with favorable/intermediate karyotypes but not with survival in de novo AML patients.

  9. Multicolor karyotype analyses of mouse embryonic stem cells.

    PubMed

    Guo, Jianli; Jauch, Anna; Heidi, Holtgreve-Grez; Schoell, Brigitte; Erz, Dorothee; Schrank, Martina; Janssen, Johannes W G

    2005-01-01

    The manipulation of embryonic stem (ES) cells to introduce directional genetic changes into the genome of mice has become an important tool in biomedical research. Monitoring of cell morphology before and after DNA manipulation and special culture conditions are a prerequisite to preserve the pluripotent properties of ES cells and thus their ability to generate chimera and effective germline transmission (GLT). It has been reported that prolonged cell culturing may affect the diploid chromosomal composition of cells and therefore the percentage of chimerism and GLT. Herein, we report multicolor-fluorescence in situ hybridization (M-FISH) analysis of four different ES cell lines/clones. Although the morphology of all four ES cell lines/clones appeared normal and all four expressed the early markers Oct-3/4 and Nanog, two cell lines presented consistent numerical and structural chromosome aberrations. We demonstrate that M-FISH is a sensitive and accurate method for a comprehensive karyotype analysis of ES cells and may minimize time, costs, and disappointments due to inadequate ES cell sources.

  10. Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia.

    PubMed

    Sidhu, Manpreet; Kale, Alka D; Kotrashetti, Vijayalakshmi S

    2012-09-01

    Hereditary ectodermal dysplasia is a genetic recessive trait characterized by hypohydrosis, hypotrichosis, and hypodontia. The affected individual show characteristic physiognomy like protruded forehead, depressed nasal bridge, periorbital wrinkling, protruded lips, etc. There is marked decrease in sweat and salivary secretion. Due to skin involvement palm and sole ridge patterns are disrupted. In this study an attempt has been made to classify the affected members according to the degree of penetrance by pedigree analysis and also study karyotyping for cytogenetics, dermatoglyphic analysis for the various ridge patterns and variations in the number of sweat glands by sweat pore analysis in affected individuals. A total of five families who were affected with ectodermal dysplasia were considered. Pedigree analysis was drawn up to three generation by obtaining history. Dermatoglyphics and sweat pore analysis was done by obtaining palm and finger print impression using stamp pad ink. Karyotyping was done by collecting 3-5 ml peripheral blood. Karyotyping was prepared using lymphocyte culture. Chromosomes were examined at 20 spreads selected randomly under ×100 magnification. Results were analyzed by calculating mean values and percentage was obtained. Karyotyping did not show any abnormalities, dermatoglyphic analysis and sweat pore counts showed marked variations when compared with normal. Moreover, pedigree analysis confirmed the status of the disease as that of the recessive trait. Large number of affected patients needs to be evaluated for dermatoglypic analysis. Genetic aspect of the disease needs to be looked into the molecular level in an attempt to locate the gene locus responsible for ectodermal dysplasia and its manifestation.

  11. Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia

    PubMed Central

    Sidhu, Manpreet; Kale, Alka D; Kotrashetti, Vijayalakshmi S

    2012-01-01

    Background: Hereditary ectodermal dysplasia is a genetic recessive trait characterized by hypohydrosis, hypotrichosis, and hypodontia. The affected individual show characteristic physiognomy like protruded forehead, depressed nasal bridge, periorbital wrinkling, protruded lips, etc. There is marked decrease in sweat and salivary secretion. Due to skin involvement palm and sole ridge patterns are disrupted. Aim: In this study an attempt has been made to classify the affected members according to the degree of penetrance by pedigree analysis and also study karyotyping for cytogenetics, dermatoglyphic analysis for the various ridge patterns and variations in the number of sweat glands by sweat pore analysis in affected individuals. Materials and Methods: A total of five families who were affected with ectodermal dysplasia were considered. Pedigree analysis was drawn up to three generation by obtaining history. Dermatoglyphics and sweat pore analysis was done by obtaining palm and finger print impression using stamp pad ink. Karyotyping was done by collecting 3–5 ml peripheral blood. Karyotyping was prepared using lymphocyte culture. Chromosomes were examined at 20 spreads selected randomly under ×100 magnification. Results were analyzed by calculating mean values and percentage was obtained. Results: Karyotyping did not show any abnormalities, dermatoglyphic analysis and sweat pore counts showed marked variations when compared with normal. Moreover, pedigree analysis confirmed the status of the disease as that of the recessive trait. Conclusion: Large number of affected patients needs to be evaluated for dermatoglypic analysis. Genetic aspect of the disease needs to be looked into the molecular level in an attempt to locate the gene locus responsible for ectodermal dysplasia and its manifestation. PMID:23248471

  12. A new karyotype for Rhipidomys (Rodentia, Cricetidae) from Southeastern Brazil

    PubMed Central

    de Carvalho, Ana Heloisa; Lopes, Maria Olímpia Garcia; Svartman, Marta

    2012-01-01

    Abstract In this work we present a new karyotype for Rhipidomys Tschudi, 1845 (Cricetidae, Rodentia) from Brazil. Our chromosome analyses included GTG- and CBG-banding patterns, the localization of the nucleolus organizer regions after silver staining (Ag-NORs) and fluorescence in situ hybridization (FISH) with a telomere probe. The new karyotype is composed of 44 chromosomes and has a fundamental number (number of autosomal arms) of 48. Most Rhipidomys species already karyotyped presented similar complements with 2n=44, but their fundamental numbers varied from FN=46 to 80, a variation that has been mainly attributed to pericentric inversions. The comparison of this new karyotype to those of other Rhipidomys already reported allowed us to conclude that it is a distinctive chromosome complement, which can be of great use as a tool for the very complicated taxonomic identification in this genus. PMID:24260664

  13. Turner syndrome isochromosome karyotype correlates with decreased dental crown width.

    PubMed

    Rizell, S; Barrenäs, M-L; Andlin-Sobocki, A; Stecksén-Blicks, C; Kjellberg, H

    2012-04-01

    The aim of this project was to study possible influences of Turner syndrome (TS) karyotype and the number of X chromosomes with intact short arm (p-arm) on dental crown width. Primary and permanent mesio-distal crown width was measured on plaster casts from 112 TS females. The influence on crown width of four karyotypes: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other, and the number of intact X chromosomal p-arms were investigated. In comparisons between karyotypes, statistically significant differences were found for isochromosome karyotype maxillary second premolars, canines, laterals, mandibular first premolars, and canines, indicating that this karyotype was the most divergent as shown by the most reduced crown width. When each karyotype group were compared versus controls, all teeth in the isochromosome group were significantly smaller than controls (P < 0.01-0.001). The 45,X/46,XX karyotype expressed fewer and smaller differences from controls, while 45,X individuals seemed to display an intermediate tooth width compared with 45,X/46,XX and isochromosomes. No significant difference in crown width was found comparing the groups with one or two intact X chromosomal p-arms. Both primary and permanent teeth proved to have a significantly smaller crown width in the entire group of TS females compared to healthy females. We conclude that the isochromosome group deviates most from other karyotypes and controls, exhibiting the smallest dental crown width, while individuals with 45,X/46,XX mosaicism seemed to have a less affected crown width. An influence of the number of intact p-arms on crown width could not be demonstrated in this study.

  14. Comparative chromosome painting of pronghorn (Antilocapra americana) and saola (Pseudoryx nghetinhensis) karyotypes with human and dromedary camel probes

    PubMed Central

    2014-01-01

    Background Pronghorn (Antilocapridae, 2n = 58) and saola (Bovidae, 2n = 50) are members of Pecora, a highly diversified group of even-toed hoofed mammals. Karyotypes of these species were not involved in chromosome painting studies despite their intriguing phylogenetic positions in Pecora. Results To trace the chromosome evolution during very fast radiation of main families from the common Pecoran ancestor, high-resolution comparative chromosome maps of pronghorn and saola with human (HSA) and dromedary camel (CDR) painting probes were established. The human and dromedary camel painting probes revealed 50 and 64 conserved segments respectively in the pronghorn genome, while 51 and 63 conserved segments respectively in the saola genome. Integrative analysis with published comparative maps showed that inversions in chromosomes homologous to CDR19/35/19 (HSA 10/20/10), CDR12/34/12 (HSA12/22/12/22), CDR10/33/10 (HSA 11) are present in representatives of all five living Pecoran families. The pronghorn karyotype could have formed from a putative 2n = 58 Pecoran ancestral karyotype by one fission and one fusion and that the saola karyotype differs from the presumed 2n = 60 bovid ancestral karyotype (2n = 60) by five fusions. Conclusion The establishment of high-resolution comparative maps for pronghorn and saola has shed some new insights into the putative ancestral karyotype, chromosomal evolution and phylogenic relationships in Pecora. No cytogenetic signature rearrangements were found that could unite the Antilocapridae with Giraffidae or with any other Pecoran families. Our data on the saola support a separate position of Pseudorigyna subtribe rather than its affinity to either Bovina or Bubalina, but the saola phylogenetic position within Bovidae remains unresolved. PMID:24923361

  15. Karyotype evolution in the Pinaceae: implication with molecular phylogeny.

    PubMed

    Nkongolo, K K; Mehes-Smith, M

    2012-11-01

    The family Pinaceae is made up mostly of diploid species (2n = 24). Systematization of karyotype analysis was developed to make comparison of intra- and interspecific karyotypes among the Pinaceae more accurate and reliable. Considering all parameters, the genera Pseudotsuga and Pseudolarix have the "most derived" (or advanced) and asymmetric karyotypes in the Pinaceae, followed by Larix, Picea, Abies, and Cedrus. The genus Pinus was the "least derived" (or ancestral) of all the genera of the Pinaceae analyzed. Differences in karyotype formulae and asymmetry indices were found among species within the same genera, suggesting that structural changes may have contributed to the diversification of the genus. This review is a detailed analysis of comparative karyotyping based on similar parameters, including numeric data and cytogenetic information. Telomeric sequence repeats and rDNA distribution in the Pinaceae were surveyed. The role of transposition in rDNA chromosome distribution is analyzed. Cytogenetic implications of hybridization between related species are reported. Likewise, the relationships between molecular phylogenetic and karyotype evolution is discussed in light of several reports. Within many genera, chromosomal organization was conserved despite independent molecular divergence and adaptation through the evolutionary history of the species of the Pinaceae.

  16. Gender role behavior in children with XY karyotype and disorders of sex development.

    PubMed

    Jürgensen, Martina; Hiort, Olaf; Holterhus, Paul-Martin; Thyen, Ute

    2007-03-01

    Children exhibit gender-typical preferences in play, toys, activities and interests, and playmates. Several studies suggest that high concentrations of pre- and postnatal androgens contribute to male-typical behavior development, whereas female-typical behavior develops in the absence of high androgens levels. This study aims to explore the consequences of hypoandrogenization on gender-typical behavior in children who have an XY karyotype and disorder of sex development (DSD). Participants included 33 children (ages 2-12 years) with an XY karyotype and DSD; 21 reared as girls and 12 reared as boys. Children's preferred activities and interests and playmate preferences were assessed with parent report questionnaires, a structured free-play task, and choice of a toy to keep as a gift. Participant's responses were compared to those of children recruited in a pre-school and elementary school survey (N=166). In this study, the degree of hypoandrogenization as indicated by genital stage and diagnosis showed a significant relationship to nearly all of the gender-related behaviors assessed, supporting the hypothesis that masculinization of gender role behavior is a function of prenatal androgen exposure. Despite the fact that children with partial androgen effects reared as girls showed increased "boyish" behaviors, they did not show increased signs of gender identity confusion or instability on a group level. We conclude that androgen exposure plays a decisive role in the development of gender-typical behavior in children with XY karyotype and DSD conditions.

  17. Morphological and karyotypic differences within and among populations of Radopholus similis

    PubMed Central

    Xu, Chun-Ling; Li, Yun; Xie, Hui; Huang, Xin; Wu, Wen-Jia; Yu, Lu; Wang, Dong-Wei

    2014-01-01

    Abstract Twenty populations of Radopholus similis from three countries and different hosts (19 populations from ornamental plants and one population from ginger) were compared using morphological characters, morphometrics and karyotype between progeny from both single females and 30 females of each population. Morphological diversity existed in and among the populations, even within the progeny nematodes from single nematodes compared to that of 30 females. The labial disc shape, the number of head annuli, the terminated position of lateral lips, the number of genital papillae before cloacal apertures and female and male tail terminal shape showed variation. In addition, genital papillae arranged in a double row before cloacal apertures was first found in two ornamental populations. The karyotype of all the 20 populations was n = 5. Combining our results and previous studies, we support that Radopholus citrophilus is a synonym of Radopholus similis, and that it is not possible to distinguish physiological races or pathotypes of Radopholus similis according to morphological characters or karyotype. PMID:25349501

  18. Complex karyotype in a case of cutaneous lymphangiosarcoma associated with chronic lymphedema of the lower limb.

    PubMed

    Marando, Alessandro; Bernasconi, Barbara; Sabatino, Daniele; Militti, Lucia; Capella, Carlo

    2014-12-01

    Lymphangiosarcoma is a rare malignant neoplasm of endothelial cells. The term is used to describe an angiosarcoma associated with chronic lymphedema. The skin of the head and neck region is the most common site of origin. Rather few cytogenetic studies on lymphangiosarcoma are reported in the literature. We here describe a case of an 87-year-old woman, with a history of recurring lymphangitis and with an ulcerated nodular lesion of the leg. The histological diagnosis was a malignant neoplasm of vascular origin, with the morphological and immunohistochemical features of a lymphangiosarcoma. A series of antibodies (CD31, CD34, vimentin, podoplanin and HHV-8), conventional and molecular cytogenetic and Spectral Karyotyping (SKY-FISH) analyses were used to study this case. The immunohistochemical evaluation revealed that the neoplasm was positive for vimentin, CD31, CD34 and podoplanin and negative for HHV-8. The proliferation rate (Ki-67) was about 70%. Karyotype was defined using conventional cytogenetic and SKY-FISH. In addition, high-level of amplification was observed with MYC split signal probe. The morphological and immunohistochemical evaluations supported the diagnosis of lymphangiosarcoma. Moreover, the cytogenetic and molecular findings contributed towards accurately defining the karyotypic aberrations of this rare sarcoma. Copyright © 2014 Elsevier GmbH. All rights reserved.

  19. Chromosomal Diversity and Karyotype Evolution in South American Macaws (Psittaciformes, Psittacidae).

    PubMed

    de Oliveira Furo, Ivanete; Kretschmer, Rafael; O'Brien, Patrícia C; Ferguson-Smith, Malcolm A; de Oliveira, Edivaldo Herculano Corrêa

    2015-01-01

    Most species of macaws, which represent the largest species of Neotropical Psittacidae, characterized by their long tails and exuberant colours, are endangered, mainly because of hunting, illegal trade and habitat destruction. Long tailed species seem to represent a monophyletic group within Psittacidae, supported by cytogenetic data. Hence, these species show karyotypes with predominance of biarmed macrochromosomes, in contrast to short tailed species, with a predominance of acro/telocentric macrochromosomes. Because of their similar karyotypes, it has been proposed that inversions and translocations may be the main types of rearrangements occurring during the evolution of this group. However, only one species of macaw, Ara macao, that has had its genome sequenced was analyzed by means of molecular cytogenetics. Hence, in order to verify the rearrangements, we analyzed the karyotype of two species of macaws, Ara chloropterus and Anodorhynchus hyacinthinus, using cross-species chromosome painting with two different sets of probes from chicken and white hawk. Both intra- and interchromosomal rearrangements were observed. Chicken probes revealed the occurrence of fusions, fissions and inversions in both species, while the probes from white hawk determined the correct breakpoints or chromosome segments involved in the rearrangements. Some of these rearrangements were common for both species of macaws (fission of GGA1 and fusions of GGA1p/GGA4q, GGA6/GGA7 and GGA8/GGA9), while the fissions of GGA 2 and 4p were found only in A. chloropterus. These results confirm that despite apparent chromosomal similarity, macaws have very diverse karyotypes, which differ from each other not only by inversions and translocations as postulated before, but also by fissions and fusions.

  20. Chromosomal Diversity and Karyotype Evolution in South American Macaws (Psittaciformes, Psittacidae)

    PubMed Central

    de Oliveira Furo, Ivanete; Kretschmer, Rafael; O’Brien, Patrícia C.; Ferguson-Smith, Malcolm A.; de Oliveira, Edivaldo Herculano Corrêa

    2015-01-01

    Most species of macaws, which represent the largest species of Neotropical Psittacidae, characterized by their long tails and exuberant colours, are endangered, mainly because of hunting, illegal trade and habitat destruction. Long tailed species seem to represent a monophyletic group within Psittacidae, supported by cytogenetic data. Hence, these species show karyotypes with predominance of biarmed macrochromosomes, in contrast to short tailed species, with a predominance of acro/telocentric macrochromosomes. Because of their similar karyotypes, it has been proposed that inversions and translocations may be the main types of rearrangements occurring during the evolution of this group. However, only one species of macaw, Ara macao, that has had its genome sequenced was analyzed by means of molecular cytogenetics. Hence, in order to verify the rearrangements, we analyzed the karyotype of two species of macaws, Ara chloropterus and Anodorhynchus hyacinthinus, using cross-species chromosome painting with two different sets of probes from chicken and white hawk. Both intra- and interchromosomal rearrangements were observed. Chicken probes revealed the occurrence of fusions, fissions and inversions in both species, while the probes from white hawk determined the correct breakpoints or chromosome segments involved in the rearrangements. Some of these rearrangements were common for both species of macaws (fission of GGA1 and fusions of GGA1p/GGA4q, GGA6/GGA7 and GGA8/GGA9), while the fissions of GGA 2 and 4p were found only in A. chloropterus. These results confirm that despite apparent chromosomal similarity, macaws have very diverse karyotypes, which differ from each other not only by inversions and translocations as postulated before, but also by fissions and fusions. PMID:26087053

  1. Cytogentic analysis of human dermal fibroblasts (HDFs) in early and late passages using both karyotyping and comet assay techniques.

    PubMed

    Allahbakhshian-Farsani, Mehdi; Abdian, Narges; Ghasemi-Dehkordi, Payam; Sadeghiani, Marzieh; Saffari-Chaleshtori, Javad; Hashemzadeh-Chaleshtori, Morteza; Khosravi-Farsani, Somayeh

    2014-10-01

    Human dermal fibroblasts (HDFs) are a potential source of somatic cells for genetic manipulation and tissue engineering. Confirmation of cytogenetic stability of these cells is an essential step for cell nuclear transfer and generation of a suitable and functional induced pluripotent stem cells line. HDF cells were isolated and cultured from human foreskin samples. Cytogenetic stability of these cells was evaluated in early (3-4) and late (10-15) passages using karyotype test and alkaline comet assay techniques. HDF cells in early and late passages showed normal karyotype but by comet assay abnormality and DNA damages in late passages of HDFs were observed. Also, the parameters of alkaline comet assay in early passages of HDFs compared with late passages and positive control groups more significantly were different (p < 0.05). These findings indicate that single-strand breaks or DNA damage after many passages may have occurred in HDF cells. Our results demonstrate that only early passages of HDF cells maintain cytogenetic stability and are good candidates for gene reprogramming. In conclusion, karyotype testing alone can not be used for detection of all signs of cytogenetic abnormality and DNA damages of cells. So, for precise evaluation of DNA damage and cytogenetic instability of fibroblast cells comet assay and karyotype techniques could complement each other.

  2. Multicolor spectral karyotyping of the L5178Y Tk+/- -3.7.2C mouse lymphoma cell line.

    PubMed

    Sawyer, Jeffrey R; Binz, Regina Lichti; Wang, Jianyong; Moore, Martha M

    2006-03-01

    The L5178Y/Tk+/- -3.7.2C mouse lymphoma cell line is characterized, at the cytogenetic level, by a karyotype involving both numerical and complex structural aberrations. While the karyotype is remarkably normal for a transformed cell line that has been in culture for almost half a century, there are a number of chromosomal alterations that because of their complexity cannot be fully characterized by routine or even high-resolution G-banding studies. Multicolor spectral karyotyping (SKY) was performed on the cell line in anticipation of identifying the previously unresolved chromosome aberrations and confirming interpretations previously identified by banding studies. New chromosome aberrations detected by SKY include numerical aberrations of chromosome 15, duplications of regions of chromosomes 4, 5, 12, and 18, and deletion of chromosome 14. Complex unbalanced translocations involved segments of chromosomes 6, 14, and 15. In total, the SKY technique was able to provide new refined designations on segments of eight different chromosome pairs (4, 5, 6, 9, 12, 14, 15, 18) and identified all three previously unidentified marker chromosomes. This analysis provides an updated standard reference for the karyotype of the L5178Y/Tk+/- -3.7.2C cell line used in the in vitro mouse lymphoma mutation assay. (c) 2005 Wiley-Liss, Inc.

  3. Karyotype versus microarray testing for genetic abnormalities after stillbirth.

    PubMed

    Reddy, Uma M; Page, Grier P; Saade, George R; Silver, Robert M; Thorsten, Vanessa R; Parker, Corette B; Pinar, Halit; Willinger, Marian; Stoll, Barbara J; Heim-Hall, Josefine; Varner, Michael W; Goldenberg, Robert L; Bukowski, Radek; Wapner, Ronald J; Drews-Botsch, Carolyn D; O'Brien, Barbara M; Dudley, Donald J; Levy, Brynn

    2012-12-06

    Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants. The Stillbirth Collaborative Research Network conducted a population-based study of stillbirth in five geographic catchment areas. Standardized postmortem examinations and karyotype analyses were performed. A single-nucleotide polymorphism array was used to detect copy-number variants of at least 500 kb in placental or fetal tissue. Variants that were not identified in any of three databases of apparently unaffected persons were then classified into three groups: probably benign, clinical significance unknown, or pathogenic. We compared the results of karyotype and microarray analyses of samples obtained after delivery. In our analysis of samples from 532 stillbirths, microarray analysis yielded results more often than did karyotype analysis (87.4% vs. 70.5%, P<0.001) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-number variants, 8.3% vs. 5.8%; P=0.007). Microarray analysis also identified more genetic abnormalities among 443 antepartum stillbirths (8.8% vs. 6.5%, P=0.02) and 67 stillbirths with congenital anomalies (29.9% vs. 19.4%, P=0.008). As compared with karyotype analysis, microarray analysis provided a relative increase in the diagnosis of genetic abnormalities of 41.9% in all stillbirths, 34.5% in antepartum stillbirths, and 53.8% in stillbirths with anomalies. Microarray analysis is more likely than karyotype analysis to provide a genetic diagnosis, primarily because of its success with nonviable tissue, and is especially valuable in analyses of stillbirths with congenital anomalies or in cases in which karyotype results cannot be obtained. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development.).

  4. Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth

    PubMed Central

    Reddy, Uma M.; Page, Grier P.; Saade, George R.; Silver, Robert M.; Thorsten, Vanessa R.; Parker, Corette B.; Pinar, Halit; Willinger, Marian; Stoll, Barbara J.; Heim-Hall, Josefine; Varner, Michael W.; Goldenberg, Robert L.; Bukowski, Radek; Wapner, Ronald J.; Drews-Botsch, Carolyn D.; O’Brien, Barbara M.; Dudley, Donald J.; Levy, Brynn

    2015-01-01

    Background Genetic abnormalities have been associated with 6 to 13% of stillbirths, but the true prevalence may be higher. Unlike karyotype analysis, microarray analysis does not require live cells, and it detects small deletions and duplications called copy-number variants. Methods The Stillbirth Collaborative Research Network conducted a population-based study of stillbirth in five geographic catchment areas. Standardized postmortem examinations and karyotype analyses were performed. A single-nucleotide polymorphism array was used to detect copy-number variants of at least 500 kb in placental or fetal tissue. Variants that were not identified in any of three databases of apparently unaffected persons were then classified into three groups: probably benign, clinical significance unknown, or pathogenic. We compared the results of karyotype and microarray analyses of samples obtained after delivery. Results In our analysis of samples from 532 stillbirths, microarray analysis yielded results more often than did karyotype analysis (87.4% vs. 70.5%, P<0.001) and provided better detection of genetic abnormalities (aneuploidy or pathogenic copy-number variants, 8.3% vs. 5.8%; P = 0.007). Microarray analysis also identified more genetic abnormalities among 443 antepartum stillbirths (8.8% vs. 6.5%, P = 0.02) and 67 stillbirths with congenital anomalies (29.9% vs. 19.4%, P = 0.008). As compared with karyotype analysis, microarray analysis provided a relative increase in the diagnosis of genetic abnormalities of 41.9% in all stillbirths, 34.5% in antepartum stillbirths, and 53.8% in stillbirths with anomalies. Conclusions Microarray analysis is more likely than karyotype analysis to provide a genetic diagnosis, primarily because of its success with nonviable tissue, and is especially valuable in analyses of stillbirths with congenital anomalies or in cases in which karyotype results cannot be obtained. (Funded by the Eunice Kennedy Shriver National Institute of Child Health

  5. Karyotype Evolution in Harvestmen of the Suborder Cyphophthalmi (Opiliones).

    PubMed

    Svojanovská, Hana; Nguyen, Petr; Hiřman, Matyáš; Tuf, Ivan H; Wahab, Rodzay Abdul; Haddad, Charles R; Šťáhlavský, František

    2016-01-01

    The morphologically uniform suborder Cyphophthalmi represents a basal group of harvestmen (Opiliones). As such, it plays an important role in the reconstruction of the karyotype evolution within this arachnid order. The cytogenetic analysis of 6 representatives of the suborder Cyphophthalmi, namely Miopsalis sp. (2n = 30; Stylocellidae), Austropurcellia arcticosa (Cantrell, 1980) (2n = 30; Pettalidae), Parapurcellia amatola de Bivort & Giribet, 2010 (2n = 32; Pettalidae), Paramiopsalis aff. ramulosus Juberthie, 1962 (2n = 28; Sironidae), Cyphophthalmus duricorius Joseph, 1868 (2n = 24; Sironidae), and Siro carpaticus Rafalski, 1956 (2n = 52; Sironidae) was performed. Fluorescence in situ hybridization with 18S rDNA probe was used to analyze the distribution of major ribosomal RNA genes in harvestmen. We confront the obtained cytogenetic data with current hypotheses on cyphophthalmid phylogeny to reconstruct their karyotype evolution. We conclude that the ancestral karyotype of harvestmen consisted of 2n = 30 elements with 1 chromosome pair bearing terminal rDNA clusters. The rDNA locus was multiplicated in the evolution of Cyphophthalmi. However, decreases as well as increases in the number of chromosomes have been detected in the karyotype evolution of Cyphophthalmi. Our data thus reveal unexpected diversity in cyphophthalmid karyotypes.

  6. Improved accuracy of hysteroembryoscopic biopsies for karyotyping early missed abortions.

    PubMed

    Ferro, Jaime; Martínez, Ma Carmen; Lara, Coral; Pellicer, Antonio; Remohí, José; Serra, Vicente

    2003-11-01

    To assess the potential of direct embryo and chorion biopsies obtained by hysteroembryoscopy for karyotyping early missed abortions. Clinical prospective descriptive study. Instituto Valenciano de Infertilidad, Valencia, Spain. Sixty-eight women (71 gestational sacs) with missed abortions. The gestational age on ultrasound was 6.3 weeks (range, 4-10 weeks). Transcervical hysteroembryoscopy before curettage. Comparison between the cytogenetic results from hysteroembryoscopic biospies and those of the curettage material. Hysteroembryoscopic biopsies could be taken in 97.2% of the gestational sacs. Direct embryo and chorion biopsies were suitable for chromosomal analysis. Selective samples identified misdiagnoses of the conventional curettage karyotype due to maternal contaminating tissues in 22.2% of the cases. Direct hysteroembryoscopic biopsies also enabled the diagnosis of a true placental mosaicism and the study of the individual karyotype of each gestational sac in bizygotic twin missed abortions. In early missed abortions, karyotypes from direct hysteroembryoscopic biopsies were more accurate than those from the curettage material. The finding of a 46,XX karyotype in the curettage material is not a reliable result.

  7. Karyotypes of Chironomus Meigen (Diptera: Chironomidae) species from Africa

    PubMed Central

    Wülker, Wolfgang F.; Kiknadze, I.I.; Istomina, A.G.

    2011-01-01

    Abstract The karyotypes of six African Chironomus species (Chironomus alluaudi Kieffer, 1913, Chironomus transvaalensis Kieffer, 1923, Chironomus sp. Nakuru, Chironomus formosipennis Kieffer, 1908, Chironomus prope pulcher Wiedemann, 1830, Chironomus sp. Kisumu) were investigated; four of these karyotypes were described for the first time (Chironomus sp. Nakuru, Chironomus formosipennis, Chironomus prope pulcher, Chironomus sp. Kisumu). Of the six Chironomus karyotypes, three had “pseudothummi” cytocomplex chromosome arms combinations AE CD BF G (Chironomus alluaudi, Chironomus transvaalensis, Chironomus sp. Nakuru), two had “thummi”cytocomplex arms combinations AB CD EF G (Chironomus formosipennis, Chironomus prope pulcher), and one had “parathummi”armcombinations AC BF DE G (Chironomus sp. Kisumu). Thus, three of the ten main cytocomplexes known were detected in Africa. Detailed photomaps of all chromosome arms, with the exception of arms B and G, were prepared for the karyotypes of Chironomus alluaudi, Chironomus transvaalensis, Chironomus sp. Nakuru, Chironomus prope pulcher; the karyotypes of Chironomus formosipennis, Chironomus sp. Kisumucould only be fragmentarily mapped. Endemic African banding sequences were characteristic for most of the chromosomal arms in all species studied. However, basic sequences, which can be present in different Chironomus species on different continents (Wülker, 1980; Kiknadze et al. 2008), were also detected also in several African species (Chironomus alluaudi, Chironomus sp. Nakuru, and Chironomus formosipennis). The banding sequences of African species studied allow discussion of the derivation of modern banding patterns from hypothetical species, living before separation of cytocomplexes and continents. PMID:24260617

  8. Hemolytic evaluation using polyurethane microcapsule suspensions in circulatory support devices: normalized index of hemolysis comparisons of commercial centrifugal blood pumps.

    PubMed

    Maruyama, Osamu; Yamaguchi, Katsuhiro; Nishida, Masahiro; Onoguchi, Tomio; Tsutsui, Tatsuo; Jikuya, Tomoaki; Yamane, Takashi

    2008-02-01

    We have been developing some types of microcapsule suspensions with polyurethane membranes to evaluate the absolute hemolytic characteristics of the centrifugal blood pumps used in circulatory support devices such as artificial hearts. In order to facilitate/realize hemolysis testing on centrifugal blood pumps that have hemolysis levels as low as those of commercial centrifugal blood pumps, we eliminated capsules with diameters less than 72.2 microm, amounting to 15.4% of all capsules in the conventional suspension (crude suspension [CS]), and adjusted the capsule volume ratio to correspond to a hematocrit of 40%. In this way we succeeded in enhancing the sensitivity of the suspension to microcapsule destruction 61 fold. We used this new suspension (fine suspension [FS]) to perform hemolysis tests on four types of commercial pump with mock circulation systems. Under conditions of 500 mm Hg and 11.2 L/min, we successfully determined the hemolytic characteristics (normalized index of hemolysis [NIH]) of some of the centrifugal blood pumps; the results showed some correlation with those of hemolysis tests on bovine blood and suggest that microcapsule suspensions with polyurethane membranes are useful as standard test solutions for the absolute evaluation of centrifugal blood pumps.

  9. The Ancestral Carnivore Karyotype As Substantiated by Comparative Chromosome Painting of Three Pinnipeds, the Walrus, the Steller Sea Lion and the Baikal Seal (Pinnipedia, Carnivora)

    PubMed Central

    Beklemisheva, Violetta R.; Perelman, Polina L.; Lemskaya, Natalya A.; Kulemzina, Anastasia I.; Proskuryakova, Anastasia A.; Burkanov, Vladimir N.; Graphodatsky, Alexander S.

    2016-01-01

    Karyotype evolution in Carnivora is thoroughly studied by classical and molecular cytogenetics and supplemented by reconstructions of Ancestral Carnivora Karyotype (ACK). However chromosome painting information from two pinniped families (Odobenidae and Otariidae) is noticeably missing. We report on the construction of the comparative chromosome map for species from each of the three pinniped families: the walrus (Odobenus rosmarus, Odobenidae–monotypic family), near threatened Steller sea lion (Eumetopias jubatus, Otariidae) and the endemic Baikal seal (Pusa sibirica, Phocidae) using combination of human, domestic dog and stone marten whole-chromosome painting probes. The earliest karyological studies of Pinnipedia showed that pinnipeds were characterized by a pronounced karyological conservatism that is confirmed here with species from Phocidae, Otariidae and Odobenidae sharing same low number of conserved human autosomal segments (32). Chromosome painting in Pinnipedia and comparison with non-pinniped carnivore karyotypes provide strong support for refined structure of ACK with 2n = 38. Constructed comparative chromosome maps show that pinniped karyotype evolution was characterized by few tandem fusions, seemingly absent inversions and slow rate of genome rearrangements (less then one rearrangement per 10 million years). Integrative comparative analyses with published chromosome painting of Phoca vitulina revealed common cytogenetic signature for Phoca/Pusa branch and supports Phocidae and Otaroidea (Otariidae/Odobenidae) as sister groups. We revealed rearrangements specific for walrus karyotype and found the chromosomal signature linking together families Otariidae and Odobenidae. The Steller sea lion karyotype is the most conserved among three studied species and differs from the ACK by single fusion. The study underlined the strikingly slow karyotype evolution of the Pinnipedia in general and the Otariidae in particular. PMID:26821159

  10. The Ancestral Carnivore Karyotype As Substantiated by Comparative Chromosome Painting of Three Pinnipeds, the Walrus, the Steller Sea Lion and the Baikal Seal (Pinnipedia, Carnivora).

    PubMed

    Beklemisheva, Violetta R; Perelman, Polina L; Lemskaya, Natalya A; Kulemzina, Anastasia I; Proskuryakova, Anastasia A; Burkanov, Vladimir N; Graphodatsky, Alexander S

    2016-01-01

    Karyotype evolution in Carnivora is thoroughly studied by classical and molecular cytogenetics and supplemented by reconstructions of Ancestral Carnivora Karyotype (ACK). However chromosome painting information from two pinniped families (Odobenidae and Otariidae) is noticeably missing. We report on the construction of the comparative chromosome map for species from each of the three pinniped families: the walrus (Odobenus rosmarus, Odobenidae-monotypic family), near threatened Steller sea lion (Eumetopias jubatus, Otariidae) and the endemic Baikal seal (Pusa sibirica, Phocidae) using combination of human, domestic dog and stone marten whole-chromosome painting probes. The earliest karyological studies of Pinnipedia showed that pinnipeds were characterized by a pronounced karyological conservatism that is confirmed here with species from Phocidae, Otariidae and Odobenidae sharing same low number of conserved human autosomal segments (32). Chromosome painting in Pinnipedia and comparison with non-pinniped carnivore karyotypes provide strong support for refined structure of ACK with 2n = 38. Constructed comparative chromosome maps show that pinniped karyotype evolution was characterized by few tandem fusions, seemingly absent inversions and slow rate of genome rearrangements (less then one rearrangement per 10 million years). Integrative comparative analyses with published chromosome painting of Phoca vitulina revealed common cytogenetic signature for Phoca/Pusa branch and supports Phocidae and Otaroidea (Otariidae/Odobenidae) as sister groups. We revealed rearrangements specific for walrus karyotype and found the chromosomal signature linking together families Otariidae and Odobenidae. The Steller sea lion karyotype is the most conserved among three studied species and differs from the ACK by single fusion. The study underlined the strikingly slow karyotype evolution of the Pinnipedia in general and the Otariidae in particular.

  11. Karyotypic and fluorescent in situ hybridization study of the centromere of chromosome 7 in secondary myeloid neoplasms

    PubMed Central

    Tanizawa, Roberta Sandra da Silva; Kumeda, Cristina Aiko; de Azevedo Neto, Raymundo Soares; Leal, Aline de Medeiros; Ferreira, Patrícia de Barros; Velloso, Elvira Deolinda Rodrigues Pereira

    2011-01-01

    Background Secondary myeloid neoplasms comprise a group of secondary diseases following exposure to myelotoxic agents or due to congenital diseases. The improvement of anticancer agents and immunosuppressive drugs seem to be associated with an increased incidence of secondary myeloid neoplasms. Karyotyping of bone marrow is essential for diagnosis and prognosis. Previous use of alkylating agents and radiation are associated with clonal abnormalities such as recurrent unbalanced -5/5q-, -7/7q- and complex karyotypes, whereas topoisomerase-II inhibitors lead to changes such as the balanced 11q23 rearrangement, t(8;21), t(15;17) and inv(16). Objective To study the clinical and cytogenetic data of patients with secondary myeloid neoplasms who took antineoplastic and/or immunosuppressive drugs or progressed from aplastic anemia. Methods The clinical and cytogenetic characteristics of 42 patients diagnosed with secondary myeloid neoplasms in one institution were retrospectively evaluated. Of these, 25, 11 and 6 patients had had oncological diseases, aplastic anemia and other diseases, respectively. Conventional cytogenetic and FISH analyses were performed for monosomy 7. Results The cytogenetic study was conclusive in 32 cases with 84.4% of clonal abnormalities. Monosomy 7 and complex karyotypes were present in 44.4% and 37%, respectively. A high prevalence of unbalanced abnormalities (96.3%) was observed. Monosomy 7 was more prevalent in patients with myelodysplastic syndromes/myeloid neoplasms after aplastic anemia (66.6%). The median survival after diagnosis of myeloid neoplasms was only 5.7 months. Normal cytogenetics was associated to better survival (p-value = 0.03). There was a slightly worse trend of survival for patients with complex karyotypes (p-value = 0.057). Abnormal karyotype was an independent risk factor for poor survival (p-value = 0.012). Conclusion This study enhances the importance of cytogenetic analysis of patients at the time of diagnosis of

  12. Karyotype of three Lonchophylla species (Chiroptera, Phyllostomidae) from Southeastern Brazil

    PubMed Central

    Almeida, Brunna; Novaes, Roberto Leonan Morim; Aguieiras, Marcia; Souza, Renan de França; Esbérard, Carlos Eduardo Lustosa; Geise, Lena

    2016-01-01

    Abstract Lonchophylla Thomas, 1903 is a Neotropical bat genus that comprises 12 species, with little cytogenetic information available. Here we present the description of the karyotype of three species collected in Southeastern Brazil. Lonchophylla bokermanni Sazima, Vizotto & Taddei, 1978, Lonchophylla dekeyseri Taddei, Vizotto & Sazima, 1983, and Lonchophylla peracchii Dias, Moratelli & Esberard, 2013 showed the same diploid number 2n = 28 and the same autosomal fundamental number FNa = 50, in both Lonchophylla bokermanni and Lonchophylla peracchii. We observed that the karyotypes were also cytogenetically similar when we compared the studied species with other species within the same genus. It is therefore not possible to differentiate the species using only karyotypes with conventional staining. However, this information increases the knowledge of the genus and can be one more important character for a better phylogenetic comprehension of this taxon. PMID:27186341

  13. Detecting Mechanisms of Karyotype Evolution in Heterotaxis (Orchidaceae)

    PubMed Central

    Olmos Simões, André; Ojeda Alayon, Dario Isidro; de Barros, Fábio; Forni-Martins, Eliana Regina

    2016-01-01

    The karyotype is shaped by different chromosome rearrangements during species evolution. However, determining which rearrangements are responsible for karyotype changes is a challenging task and the combination of a robust phylogeny with refined karyotype characterization, GS measurements and bioinformatic modelling is necessary. Here, this approach was applied in Heterotaxis to determine what chromosome rearrangements were responsible for the dysploidy variation. We used two datasets (nrDNA and cpDNA, both under MP and BI) to infer the phylogenetic relationships among Heterotaxis species and the closely related genera Nitidobulbon and Ornithidium. Such phylogenies were used as framework to infer how karyotype evolution occurred using statistical methods. The nrDNA recovered Ornithidium, Nitidobulbon and Heterotaxis as monophyletic under both MP and BI; while cpDNA could not completely separate the three genera under both methods. Based on the GS, we recovered two groups within Heterotaxis: (1) "small GS", corresponding to the Sessilis grade, composed of plants with smaller genomes and smaller morphological structure, and (2) "large GS", corresponding to the Discolor clade, composed of plants with large genomes and robust morphological structures. The robust karyotype modeling, using both nrDNA phylogenies, allowed us to infer that the ancestral Heterotaxis karyotype presented 2n = 40, probably with a proximal 45S rDNA on a metacentric chromosome pair. The chromosome number variation was caused by ascending dysploidy (chromosome fission involving the proximal 45S rDNA site resulting in two acrocentric chromosome pairs holding a terminal 45S rDNA), with subsequent descending dysploidy (fusion) in two species, H. maleolens and H. sessilis. However, besides dysploidy, our analysis detected another important chromosome rearrangement in the Orchidaceae: chromosome inversion, that promoted 5S rDNA site duplication and relocation. PMID:27832130

  14. Detecting Mechanisms of Karyotype Evolution in Heterotaxis (Orchidaceae).

    PubMed

    Moraes, Ana Paula; Olmos Simões, André; Ojeda Alayon, Dario Isidro; de Barros, Fábio; Forni-Martins, Eliana Regina

    2016-01-01

    The karyotype is shaped by different chromosome rearrangements during species evolution. However, determining which rearrangements are responsible for karyotype changes is a challenging task and the combination of a robust phylogeny with refined karyotype characterization, GS measurements and bioinformatic modelling is necessary. Here, this approach was applied in Heterotaxis to determine what chromosome rearrangements were responsible for the dysploidy variation. We used two datasets (nrDNA and cpDNA, both under MP and BI) to infer the phylogenetic relationships among Heterotaxis species and the closely related genera Nitidobulbon and Ornithidium. Such phylogenies were used as framework to infer how karyotype evolution occurred using statistical methods. The nrDNA recovered Ornithidium, Nitidobulbon and Heterotaxis as monophyletic under both MP and BI; while cpDNA could not completely separate the three genera under both methods. Based on the GS, we recovered two groups within Heterotaxis: (1) "small GS", corresponding to the Sessilis grade, composed of plants with smaller genomes and smaller morphological structure, and (2) "large GS", corresponding to the Discolor clade, composed of plants with large genomes and robust morphological structures. The robust karyotype modeling, using both nrDNA phylogenies, allowed us to infer that the ancestral Heterotaxis karyotype presented 2n = 40, probably with a proximal 45S rDNA on a metacentric chromosome pair. The chromosome number variation was caused by ascending dysploidy (chromosome fission involving the proximal 45S rDNA site resulting in two acrocentric chromosome pairs holding a terminal 45S rDNA), with subsequent descending dysploidy (fusion) in two species, H. maleolens and H. sessilis. However, besides dysploidy, our analysis detected another important chromosome rearrangement in the Orchidaceae: chromosome inversion, that promoted 5S rDNA site duplication and relocation.

  15. Human chromosome karyotyping and molecular biology by flow cytometry

    SciTech Connect

    Yu, L.C.; Gray, J.W.; Langlois, R.; Van Dilla, M.A.; Carrano, A.V.

    1982-03-22

    Flow cytometry is a sensitive analytical tool for rapdily measuring the biological, chemical and physical properties of cells and cellular components, such as chromosomes and has become a promising system for automating human chromosomal karyotyping. Unlike traditional approaches based upon chromosomal length, centromeric index, and banding patterns, it is based on the measurement of chromosomal DNA content and base composition and can classify chromosomes more objectively. In this paper we describe flow karyotyping and chromosome sorting and compare flow cytometry with the use of cell hybrids for gene mapping and the construction of chromosome-specific genomic libraries.

  16. Variation of electrophoretic karyotypes among clinical isolates of Candida albicans.

    PubMed Central

    Merz, W G; Connelly, C; Hieter, P

    1988-01-01

    Orthogonal-field-alternation gel electrophoresis was used to compare clinical isolates of Candida albicans by resolving chromosome-sized DNA molecules into an electrophoretic karyotype. Seven to nine bands were observed among isolates recovered from 17 patients. In addition, 14 distinct electrophoretic patterns were noted among the isolates from these patients. In a given individual, isolates were likely to have identical electrophoretic patterns. Therefore, the electrophoretic karyotype patterns demonstrated by orthogonal-field-alternation gel electrophoresis can be used to designate a strain for epidemiologic studies. Images PMID:3290238

  17. First karyotype data on the family Myerslopiidae (Hemiptera, Auchenorrhyncha, Cicadomorpha)

    PubMed Central

    Golub, Natalia V.; Kuznetsova, Valentina G.; Rakitov, Roman A.

    2014-01-01

    Abstract In the first cytogenetic study of the recently proposed family Myerslopiidae the male karyotype of Mapuchea chilensis (Nielson, 1996) was analyzed using conventional chromosome staining, AgNOR- and C-bandings, and fluorescence in situ hybridization (FISH) with 18S rDNA and (TTAGG)n telomeric probes. A karyotype of 2n = 16 + XY, NOR on a medium-sized pair of autosomes, subterminal location of C-heterochromatin, and presence of (TTAGG)n telomeric sequence were determined. Additionally, the male internal reproductive system was studied. PMID:25610543

  18. Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype

    PubMed Central

    Becker, Russell E.N.; Akhavan, Ardavan

    2016-01-01

    Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development. This is likely due in part to the high prevalence of a normal 46,XX karyotype in these patients. However, disorders of sex development represent a broad phenotypic spectrum, and often patients cannot be neatly categorized with a single diagnosis. We report an atypical case of ovotesticular disorder of sex development in a child with ambiguous genitalia and 45,X/46,XY mosaic karyotype. Prophylactic bilateral gonadectomy was performed at age 14 months. PMID:26793590

  19. In vitro cardiovascular system emulator (bioreactor) for the simulation of normal and diseased conditions with and without mechanical circulatory support.

    PubMed

    Ruiz, Paula; Rezaienia, Mohammad Amin; Rahideh, Akbar; Keeble, Thomas R; Rothman, Martin T; Korakianitis, Theodosios

    2013-06-01

    This article presents a new device designed to simulate in vitro flow rates, pressures, and other parameters representing normal and diseased conditions of the human cardiovascular system. Such devices are sometimes called bioreactors or "mock" simulator of cardiovascular loops (SCVLs) in literature. Most SCVLs simulate the systemic circulation only and have inherent limitations in studying the interaction of left and right sides of circulation. Those SCVLs that include both left and right sides of the circulation utilize header reservoirs simulating cycles with constant atrial pressures. The SCVL described in this article includes models for all four chambers of the heart, and the systemic and pulmonary circulation loops. Each heart chamber is accurately activated by a separate linear motor to simulate the suction and ejection stages, thus capturing important features in the perfusion waveforms. Four mechanical heart valves corresponding to mitral, pulmonary, tricuspid, and aortic are used to control the desired unidirectional flow. This SCVL can emulate different physiological and pathological conditions of the human cardiovascular system by controlling the different parameters of blood circulation through the vascular tree (mainly the resistance, compliance, and elastance of the heart chambers). In this study, four cases were simulated: healthy, congestive heart failure, left ventricular diastolic dysfunction conditions, and left ventricular dysfunction with the addition of a mechanical circulatory support (MCS) device. Hemodynamic parameters including resistance, pressure, and flow have been investigated at aortic sinus, carotid artery, and pulmonary artery, respectively. The addition of an MCS device resulted in a significant reduction in mean blood pressure and re-establishment of cardiac output. In all cases, the experimental results are compared with human physiology and numerical simulations. The results show the capability of the SCVL to replicate various

  20. Karyotyping of human chondrocytes in scaffold-assisted cartilage tissue engineering.

    PubMed

    Trimborn, Marc; Endres, Michaela; Bommer, Christiane; Janke, Una; Krüger, Jan-Philipp; Morawietz, Lars; Kreuz, Peter C; Kaps, Christian

    2012-04-01

    Scaffold-assisted autologous chondrocyte implantation (ACI) is an effective clinical procedure for cartilage repair. The aim of our study was to evaluate the chromosomal stability of human chondrocytes subjected to typical cell culture procedures needed for regenerative approaches in polymer-scaffold-assisted cartilage repair. Chondrocytes derived from post mortem donors and from donors scheduled for ACI were expanded, cryopreserved and re-arranged in polyglycolic acid (PGA)-fibrin scaffolds for tissue culture. Chondrocyte redifferentiation was analyzed by electron microscopy, histology and gene expression analysis. Karyotyping was performed using GTG banding and fluorescence in situ hybridization on a single cell basis. Chondrocytes showed de- and redifferentiation accompanied by the formation of extracellular matrix and induction of typical chondrocyte marker genes like type II collagen in PGA-fibrin scaffolds. Post mortem chondrocytes showed up to 1.7% structural and high numbers of numerical (up to 26.7%) chromosomal aberrations, while chondrocytes from living donors scheduled for ACI showed up to 1.8% structural and up to 1.3% numerical alterations. Cytogenetically, cell culture procedures and PGA-fibrin scaffolds did not significantly alter chromosomal integrity of the chondrocyte genome. Human chondrocytes derived from living donors subjected to regenerative medicine cell culture procedures like cell expansion, cryopreservation and culture in resorbable polymer-based scaffolds show normal chromosomal integrity and normal karyotypes. Copyright © 2011 Acta Materialia Inc. Published by Elsevier Ltd. All rights reserved.

  1. End-stage renal disease and primary hypogonadism associated with a 46,XX karyotype.

    PubMed

    Bailey, W A; Zwingman, T A; Reznik, V M; Griswold, W R; Mendoza, S A; Jones, K L; Freidenberg, G R

    1992-10-01

    To determine the cause of absent sexual development in a 17-year-old girl with end-stage renal disease. Case study. Seventeen-year-old girl with end-stage renal failure. None. The patient had phenotypically normal external female genitalia, müllerian duct hypoplasia, and no ovaries. Her serum gonadotropin levels were in the castrate range at baseline and after gonadotropin-releasing hormone stimulation. Her karyotype, in lymphocytes and cultured fibroblasts, was 46,XX. Analysis of genomic DNA, following polymerase chain reaction-amplication with oligonucleotide primers corresponding to the Y-encoded zinc finger protein ZFY and the testis-determining SRY gene, showed Y chromosome material in a male control but none in the patient. The results suggest a diagnosis of Frasier syndrome, a disorder characterized by true gonadal dysgenesis and end-stage renal disease occurring in normal phenotypic girls. Although previously reported only in individuals with a 46,XX karyotype, our studies indicate that Frasier syndrome may also occur in 46,XX girls. Delayed puberty is not uncommon in renal failure. This case illustrates the importance of measuring gonadotropin levels in teenage girls with delayed puberty and renal failure, particularly if the origin of the renal disease is obscure.

  2. Evaluation of Lower Limb Motor Function Using Wireless Motion Sensors—A Comparison of Normal Elderly Subjects and those Requiring Support Level 1

    NASA Astrophysics Data System (ADS)

    Miyoshi, Hiroaki; Numata, Takayuki; Kuwae, Yutaka; Sekine, Masaki; Tsuji, Miwa; Okabe, Ichiro; Hara, Keita; Fujimoto, Toshiro; Tamura, Toshiyo

    This study quantitatively compared lower limb motility of normal subjects and those requiring support level 1 (support_1). We developed a wireless inertia sensor with an embedded tri-axial accelerometer and angular velocity sensor. Six normal elderly subjects and ten elderly subjects who were classified as support_1 by the Japanese care insurance system participated in the study. We attached the wireless motion sensors to the center of the lower back and both thighs in the subjects. Subjects were then asked to walk 10 m and perform a stepping exercise. For the evaluation, the cadence, pitch angle, and pitch angular velocity of the thigh auto-correlation function and root mean square (RMS) on the lower back were calculated. The autocorrelation coefficient function for the support_1 subjects was smaller than in the normal subjects, while the RMS was larger in support_1. These differences indicated that the gait and balance abilities of the support_1 subjects were poorer than those of the normal subjects. This suggests that our wireless motion sensor is useful for assessing the motility of the lower limbs while walking and climbing steps.

  3. Diabetes Insipidus as an Initial Presentation of Myelodysplastic Syndrome: Diagnosis with Single-Nucleotide Polymorphism Array-Based Karyotyping.

    PubMed

    Sun, Ruixue; Wang, Chun; Zhong, Xushu; Wu, Yu

    2016-04-01

    Myelodysplastic syndrome (MDS) is a group of clonal hematopoietic diseases characterized by cytopenia, dysplasia and increased risk of development to acute myeloid leukemia (AML). Unfavorable cytogenetic changes such as complex karyotypes or chromosome 7 anomalies are predictive of the progression to AML and poor prognosis. Central diabetes insipidus (CDI) is the result of a deficiency of arginine vasopressin, and its major causes are idiopathic, primary or secondary tumors, neurosurgery and trauma. Importantly, CDI is a rare complication of MDS. To date, only 5 cases of MDS co-occurring with CDI have been reported; 3 of 5 had cytogenetic abnormalities uncovered by metaphase cytogenetics and 3 of 5 evolved to AML. Here, we describe a 74-year-old woman who presented with CDI as her initial symptom of MDS and eventually progressed to AML. The metaphase cytogenetics, combined with the single-nucleotide polymorphism array (SNP-A)-based karyotyping, with superiority in resolution and detecting copy number variation, revealed a complex karyotype that included monosomy of chromosome 7, deletion of 20q, and absence of heterogeneity (AOH) in more than one chromosome. To the best of our knowledge, this is the first case report of MDS co-occurring with CDI with numerous cytogenetic abnormalities revealed by the SNP-A-based karyotyping. Our case supports that the cytogenetic abnormalities may be associated with the clinical features and the prognosis of MDS co-occurring with CDI. The SNP-A-based karyotyping is helpful in revealing more subtle cytogenetic abnormalities and unveiling their roles in the pathogenesis of MDS.

  4. Identifying the similarities and differences between single nucleotide polymorphism array (SNPa) analysis and karyotyping in acute myeloid leukemia and myelodysplastic syndromes

    PubMed Central

    Noronha, Thiago Rodrigo de; Rohr, Sandra Serson; Chauffaille, Maria de Lourdes Lopes Ferrari

    2014-01-01

    Objective To standardize the single nucleotide polymorphism array (SNPa) method in acute myeloid leukemia/myelodysplastic syndromes, and to identify the similarities and differences between the results of this method and karyotyping. Methods Twenty-two patients diagnosed with acute myeloid leukemia and three with myelodysplastic syndromes were studied. The G-banding karyotyping and single nucleotide polymorphism array analysis (CytoScan® HD) were performed using cells from bone marrow, DNA extracted from mononuclear cells from bone marrow and buccal cells (BC). Results The mean age of the patients studied was 54 years old, and the median age was 55 years (range: 28–93). Twelve (48%) were male and 13 (52%) female. Ten patients showed abnormal karyotypes (40.0%), 11 normal (44.0%) and four had no mitosis (16.0%). Regarding the results of bone marrow single nucleotide polymorphism array analysis: 17 were abnormal (68.0%) and eight were normal (32.0%). Comparing the two methods, karyotyping identified a total of 17 alterations (8 deletions/losses, 7 trissomies/gains, and 2 translocations) and single nucleotide polymorphism array analysis identified a total of 42 alterations (17 losses, 16 gains and 9 copy-neutral loss of heterozygosity). Conclusion It is possible to standardize single nucleotide polymorphism array analysis in acute myeloid leukemia/myelodysplastic syndromes and compare the results with the abnormalities detected by karyotyping. Single nucleotide polymorphism array analysis increased the detection rate of abnormalities compared to karyotyping and also identified a new set of abnormalities that deserve further investigation in future studies. PMID:25638768

  5. Karyotype analysis in large-sample infertile couples living in Central China: a study of 14965 couples.

    PubMed

    Liu, Yan; Kong, Xiang-dong; Wu, Qing-hua; Li, Gang; Song, Lin; Sun, Ying-Pu

    2013-04-01

    To explore that it is necessary to routinely detect chromosomes in fertile couples, we detected peripheral blood lymphocyte karyotype in 14965 infertile couples living in Central China and analyzed the incidence and type of chromosomal anomaly. G-banding karyotype analysis of peripheral blood lymphocytes was performed in 14965 couples who went to the outpatient department of our reproductive medical center for counseling on infertility between January 2004 and December 2011. Semen analysis was performed three times in all the men from the 14965 couples. The rate of chromosomal anomaly in the 14965 infertile couples was 3.84 % (1150/29930). The rate of chromosomal anomaly in the men from 14965 couples was 6.84 % (1024/14965) and in the women 0.84 % (126/14965). The rates of chromosomal anomaly were 1.69 % in normal semen group, 11.82 % in light oligo-astheno-spermis group, 6.58 % in moderate to severe olig-astheno-spermia group and 17.26 % in azoospermia group. Since the rates of chromosomal anomaly are 1.69 % and 11.82 % even in normal semen group and light oligo-astheno-spermia group, respectively, it is necessary to detect peripheral blood lymphocyte karyotype in all infertile couples.

  6. Expression of HMGI-C and HMGI(Y) in ordinary lipoma and atypical lipomatous tumors: immunohistochemical reactivity correlates with karyotypic alterations.

    PubMed Central

    Tallini, G.; Dal Cin, P.; Rhoden, K. J.; Chiapetta, G.; Manfioletti, G.; Giancotti, V.; Fusco, A.; Van den Berghe, H.; Sciot, R.

    1997-01-01

    The high mobility group proteins (HMGs) are a class of low molecular weight, nonhistone, nuclear proteins that bind DNA and function as transcription cofactors. This class includes the HMGI family members HMGI-C and HMGI(Y). Both are not significantly expressed in differentiated adult tissues, including fat, but their expression is induced in proliferating and transformed cells. Their involvement in the development of lipomatous tumors has been recently demonstrated for HMGI-C, which is encoded by a gene located at 12q15, the chromosomal segment often rearranged in ordinary lipomas. The same chromosomal segment is consistently amplified in the ring and giant marker chromosomes of atypical lipomatous tumors (ALTs), a term used to designate tumors previously labeled as well differentiated liposarcomas or atypical lipomas. The involvement of HMGI(Y) is strongly suspected as the gene coding for HMGI(Y) is located at 6p21, a chromosomal segment rearranged in a subset of ordinary lipomas. HMGI-C or HMGI(Y) protein expression was analyzed immunohistochemically in a group of 39 well differentiated adipose neoplasms (19 lipomas and 20 ALTs) of known karyotype using polyclonal antibodies raised against a recombinant protein (HMGI-C) and against a synthetic peptide (HMGI(Y)). The results of this study demonstrate that HMGI proteins are commonly expressed in well differentiated adipose neoplasms. Seventeen of twenty ALTS (85.0%), all of which had ring or giant marker chromosomes with amplification of 12q13-15, strongly expressed HMGI-C. HMGI-C expression was detected in 7 of 11 ordinary lipomas (63.6%) with alterations at 12q14-15 and in one case with an abnormal karyotype that included double minute chromosomes. HMGI-C immunoreactivity correlates with 12q13-15 chromosomal alterations (P = 0.001). HMGI(Y) reactivity was demonstrated in only two ordinary lipomas: one with 6p21 rearrangement and one with normal karyotype. No significant HMGI(Y) expression was found in the ALT

  7. Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.

    PubMed

    Bohec, Caroline; Douet-Guilbert, Nathalie; Basinko, Audrey; Le Bris, Marie-Josée; Marcorelles, Pascale; Audrézet, Marie-Pierre; Tetefort, Rémi; Bages, Karine; Collet, Michel; Morel, Frederic; De Braekeleer, Marc

    2010-01-01

    We report twins for whom ultrasound examinations revealed a Turner syndrome in the female fetus and a normal male fetus. A selective pregnancy termination was decided on the female fetus with hydrops. The death of both twins called in question the chorionic diagnosis. Amniotic fluid cytogenetic analysis revealed a 45,X karyotype in the female twin and a 47,XYY karyotype in the male twin. Molecular cytogenetic analysis on genital and renal cells showed different levels of 45,X/47,XYY mosaicism in both twins; molecular analysis on the amniocytes showed monozygosity. Monozygotic twins with discordant sex are very rare. This study showed the difficult diagnosis and management of a monochorionic twin pregnancy with discordant fetal sex.

  8. [Combined evaluation of serum follicle-stimulating hormone, inhibin B, chromosome karyotyping and AZF microdeletion of Y-chromosome for predicting outcomes of testicular sperm aspiration in azoospermic patients].

    PubMed

    Deng, Yongjian; Jing, Fangyan; Zhou, Na; Hu, Yonghua; Chen, Junyang; Chu, Qingjun

    2014-10-01

    To assess the value of combined evaluation of serum follicle-stimulating hormone (FSH), inhibin B (INHB), chromosome karyotyping and AZF microdeletion of Y-chromosome (AZF-MD-Ych) in predicting the success of testicular sperm aspiration (TESA) in azoospermic patients. A total of 262 azoospermic patients were divided into two groups with normal (n=162) and abnormal (n=100) serum FSH levels. INHB levels, INHB/FSH ratio, chromosome karyotype patterns of the peripheral lymphocytes, and AZF-MD-Ych were compared between the two groups. Among the patients receiving TESA, the success rate of the procedure was compared between the two groups after excluding abnormalities in INHB, chromosome karyotype and AZF-MD-Ych. Significant differences were found between the two groups in serum INHB level, INHB/FSH and chromosome karyotypes (P<0.05), but not in AZF-MD-Ych (P>0.05). After excluding the abnormalities in chromosome karyotypes, AZF-MD-Ych and INHB, sperms were obtained successfully by TESA from 61.82% (34/55) of patients with normal FSH but from none of those with abnormal FSH (P<0.01). A combined evaluation of serum FSH, INHB, chromosome karyotypes and AZF-MD-Ych can effectively predict the success of TESA in azoospermic patients, and abnormalities in all the 4 indices suggest a very low success rate of sperm retrieval by TESA.

  9. Association between ICS POP-Q coordinates and translabial ultrasound findings: implications for definition of 'normal pelvic organ support'.

    PubMed

    Dietz, H P; Kamisan Atan, I; Salita, A

    2016-03-01

    Female pelvic organ prolapse is quantified on clinical examination using the pelvic organ prolapse quantification system of the International Continence Society (ICS POP-Q). Pelvic organ descent on ultrasound is strongly associated with symptoms of prolapse, but associations between clinical and ultrasound findings remain unclear. This study was designed to compare clinical examination and imaging findings, especially regarding cut-offs for the distinction between normal pelvic organ support and prolapse. This was a retrospective study using 839 archived datasets of women referred to a tertiary urogynecological center for symptoms of lower urinary tract and pelvic floor dysfunction between June 2011 and May 2013. The main outcome measures were the maximum downward displacement of the anterior vaginal wall (point Ba), the cervix (point C) and the posterior vaginal wall (point Bp), the length of the genital hiatus (Gh) and the length of the perineal body (Pb), as defined by the ICS POP-Q; explanatory parameters were measures of pelvic organ descent on translabial ultrasound, ascertained by offline volume data analysis at a later date, by an operator blinded to all other data. Full datasets were available for 825 women. On clinical examination, 646 (78.3%) were found to have prolapse of at least POP-Q Stage 2. All coordinates on clinical examination were strongly associated with the ultrasound measurements of pelvic organ descent (P < 0.001). These relationships were almost linear, especially for the anterior compartment. There is a near linear relationship between sonographic and clinical measures of prolapse. Previously proposed cut-offs to define 'significant prolapse' on ultrasound and POP-Q (Ba ≥ -0.5 and cystocele ≥ 10 mm below the symphysis pubis, C ≥ -5 and uterine position of 15 mm above the symphysis pubis, Bp ≥ -0.5 and rectocele ≥ 15 mm below the symphysis pubis) are plausible and mutually consistent. Copyright

  10. Karyotype analysis in octoploid and decaploid wild strawberries, Fragaria (Rosaceae)

    USDA-ARS?s Scientific Manuscript database

    The 20 wild species of strawberries in the genus Fragaria (Rosaceae), have a euploid series including diploid (2n = 2x = 14) through decaploid (2n = 10x = 70) members. Karyotyping has not been thoroughly examined. The objective of this research was to determine the chromosomal morphology and karyoty...

  11. A Fluorescence In Situ Hybridization System for Karyotyping Soybean

    USDA-ARS?s Scientific Manuscript database

    The development of a universal soybean (Glycine max [L.] Merr.) cytogenetic map that associates classical genetic linkage groups, molecular linkage groups and a sequence-based physical map with the karyotype has been impeded due to the soybean chromosomes themselves, which are tiny and morphological...

  12. Esthesioneuroblastoma in a boy with 47, XYY karyotype

    PubMed Central

    Jo, Hee Cheol; Lee, Seong Wook; Jung, Hyun Joo

    2016-01-01

    Neuroblastomas are sometimes associated with abnormal constitutional karyotypes, but the XYY karyotype has been rarely described in neuroblastomas. Here, we report a case of an esthesioneuroblastoma in a boy with a 47, XYY karyotype. A 6-year-old boy was admitted to our hospital because of nasal obstruction and palpable cervical lymph node, which he first noticed several days previously. A polypoid mass in the right nasal cavity was detected through sinuscopy. Biopsy of the right nasal polyp was performed. Based on the result, the patient was diagnosed with a high-grade esthesioneuroblastoma. Nuclear imaging revealed increased uptake in both the right posterior nasal cavity and the right cervical IB-II space, suggesting metastatic lymph nodes. Cytogenetic analysis revealed a 47, XYY karyotype. Twelve courses of concurrent chemotherapy were administered. Three years after the completion of chemotherapy, the patient had had no disease recurrence. He manifested behavioral violence and temper tantrums, so we started methylphenidate for correction of the behavior. PMID:28018456

  13. Chromosome abnormalities at onset of complete remission are associated with worse outcome in patients with acute myeloid leukemia and an abnormal karyotype at diagnosis: CALGB 8461 (Alliance).

    PubMed

    Niederwieser, Christian; Nicolet, Deedra; Carroll, Andrew J; Kolitz, Jonathan E; Powell, Bayard L; Kohlschmidt, Jessica; Stone, Richard M; Byrd, John C; Mrózek, Krzysztof; Bloomfield, Clara D

    2016-12-01

    Achievement of complete remission is essential for long-term survival of acute myeloid leukemia patients. We evaluated the prognostic significance of cytogenetics at complete remission in 258 adults with de novo acute myeloid leukemia and abnormal pre-treatment karyotypes, treated on Cancer and Leukemia Group B front-line studies, with cytogenetic data at onset of morphological complete remission. Thirty-two patients had abnormal karyotypes at time of initial complete remission. Of these, 28 had at least 1 abnormality identified pre-treatment, and 4 acute myeloid leukemia-related abnormalities not detected pre-treatment. Two hundred and twenty-six patients had normal remission karyotypes. Patients with abnormal remission karyotypes were older (P<0.001), had lower pre-treatment white blood counts (P=0.002) and blood blast percentages (P=0.004), were less often classified as Favorable and more often as Adverse among European LeukemiaNet Genetic Groups (P<0.001), and had shorter disease-free survival (median 0.6 vs. 0.9 years; P<0.001) and overall survival (median 1.2 vs. 2.2 years; P<0.001) than patients with normal remission karyotypes. Sixteen patients with normal remission karyotypes also harbored non-clonal abnormalities unrelated to pre-treatment karyotypes. They had shorter overall survival than 210 patients with only normal metaphases (P=0.04). Forty-eight patients with any clonal or non-clonal chromosome abnormality at complete remission had worse disease-free survival (median 0.6 vs. 1.0 years; P<0.001) and overall survival (median 1.2 vs. 2.5 years; P<0.001) than 210 patients with exclusively normal metaphases. In multivariable analyses, after adjustment for age, the presence of any remission abnormality was associated with shorter disease-free survival (P=0.03) and overall survival (P=0.01). We conclude that detection of any abnormality at complete remission is an adverse prognostic factor. (clinicaltrials.gov identifier: 00048958). Copyright© Ferrata

  14. Is the Karyotype of Neotropical Boid Snakes Really Conserved? Cytotaxonomy, Chromosomal Rearrangements and Karyotype Organization in the Boidae Family.

    PubMed

    Viana, Patrik F; Ribeiro, Leila B; Souza, George Myller; Chalkidis, Hipócrates de Menezes; Gross, Maria Claudia; Feldberg, Eliana

    2016-01-01

    Boids are primitive snakes from a basal lineage that is widely distributed in Neotropical region. Many of these species are both morphologically and biogeographically divergent, and the relationship among some species remains uncertain even with evolutionary and phylogenetic studies being proposed for the group. For a better understanding of the evolutionary relationship between these snakes, we cytogenetically analysed 7 species and 3 subspecies of Neotropical snakes from the Boidae family using different chromosomal markers. The karyotypes of Boa constrictor occidentalis, Corallus hortulanus, Eunectes notaeus, Epicrates cenchria and Epicrates assisi are presented here for the first time with the redescriptions of the karyotypes of Boa constrictor constrictor, B. c. amarali, Eunectes murinus and Epicrates crassus. The three subspecies of Boa, two species of Eunectes and three species of Epicrates exhibit 2n = 36 chromosomes. In contrast, C. hortulanus presented a totally different karyotype composition for the Boidae family, showing 2n = 40 chromosomes with a greater number of macrochromosomes. Furthermore, chromosomal mapping of telomeric sequences revealed the presence of interstitial telomeric sites (ITSs) on many chromosomes in addition to the terminal markings on all chromosomes of all taxa analysed, with the exception of E. notaeus. Thus, we demonstrate that the karyotypes of these snakes are not as highly conserved as previously thought. Moreover, we provide an overview of the current cytotaxonomy of the group.

  15. Is the Karyotype of Neotropical Boid Snakes Really Conserved? Cytotaxonomy, Chromosomal Rearrangements and Karyotype Organization in the Boidae Family

    PubMed Central

    Viana, Patrik F.; Ribeiro, Leila B.; Souza, George Myller; Chalkidis, Hipócrates de Menezes; Gross, Maria Claudia; Feldberg, Eliana

    2016-01-01

    Boids are primitive snakes from a basal lineage that is widely distributed in Neotropical region. Many of these species are both morphologically and biogeographically divergent, and the relationship among some species remains uncertain even with evolutionary and phylogenetic studies being proposed for the group. For a better understanding of the evolutionary relationship between these snakes, we cytogenetically analysed 7 species and 3 subspecies of Neotropical snakes from the Boidae family using different chromosomal markers. The karyotypes of Boa constrictor occidentalis, Corallus hortulanus, Eunectes notaeus, Epicrates cenchria and Epicrates assisi are presented here for the first time with the redescriptions of the karyotypes of Boa constrictor constrictor, B. c. amarali, Eunectes murinus and Epicrates crassus. The three subspecies of Boa, two species of Eunectes and three species of Epicrates exhibit 2n = 36 chromosomes. In contrast, C. hortulanus presented a totally different karyotype composition for the Boidae family, showing 2n = 40 chromosomes with a greater number of macrochromosomes. Furthermore, chromosomal mapping of telomeric sequences revealed the presence of interstitial telomeric sites (ITSs) on many chromosomes in addition to the terminal markings on all chromosomes of all taxa analysed, with the exception of E. notaeus. Thus, we demonstrate that the karyotypes of these snakes are not as highly conserved as previously thought. Moreover, we provide an overview of the current cytotaxonomy of the group. PMID:27494409

  16. Cold Fusion: Massive Karyotype Evolution in the Antarctic Bullhead Notothen Notothenia coriiceps.

    PubMed

    Amores, Angel; Wilson, Catherine A; Allard, Corey A H; Detrich, H William; Postlethwait, John H

    2017-07-05

    Half of all vertebrate species share a series of chromosome fusions that preceded the teleost genome duplication (TGD), but we do not understand the causative evolutionary mechanisms. The "Robertsonian-translocation hypothesis" suggests a regular fusion of each ancestral acro- or telocentric chromosome to just one other by centromere fusions, thus halving the karyotype. An alternative "genome-stirring hypothesis" posits haphazard and repeated fusions, inversions, and reciprocal and nonreciprocal translocations. To study large-scale karyotype reduction, we investigated the decrease of chromosome numbers in Antarctic notothenioid fish. Most notothenioids have 24 haploid chromosomes, but bullhead notothen (Notothenia coriiceps) has 11. To understand mechanisms, we made a RAD-tag meiotic map with ∼10,000 polymorphic markers. Comparative genomics aligned about a thousand orthologs of platyfish and stickleback genes along bullhead chromosomes. Results revealed that 9 of 11 bullhead chromosomes arose by fusion of just two ancestral chromosomes and two others by fusion of three ancestral chromosomes. All markers from each ancestral chromosome remained contiguous, implying no inversions across fusion borders. Karyotype comparisons support a history of: (1) Robertsonian fusions of 22 ancestral chromosomes in pairs to yield 11 fused plus two small unfused chromosomes, like N. angustata; (2) fusion of one of the remaining two ancestral chromosomes to a preexisting fused pair, giving 12 chromosomes like N. rossii; and (3) fusion of the remaining ancestral chromosome to another fused pair, giving 11 chromosomes in N. coriiceps These results raise the question of what selective forces promoted the systematic fusion of chromosomes in pairs and the suppression of pericentric inversions in this lineage, and provide a model for chromosome fusions in stem teleosts. Copyright © 2017 Amores et al.

  17. Cold Fusion: Massive Karyotype Evolution in the Antarctic Bullhead Notothen Notothenia coriiceps

    PubMed Central

    Amores, Angel; Wilson, Catherine A.; Allard, Corey A. H.; Detrich, H. William; Postlethwait, John H.

    2017-01-01

    Half of all vertebrate species share a series of chromosome fusions that preceded the teleost genome duplication (TGD), but we do not understand the causative evolutionary mechanisms. The “Robertsonian-translocation hypothesis” suggests a regular fusion of each ancestral acro- or telocentric chromosome to just one other by centromere fusions, thus halving the karyotype. An alternative “genome-stirring hypothesis” posits haphazard and repeated fusions, inversions, and reciprocal and nonreciprocal translocations. To study large-scale karyotype reduction, we investigated the decrease of chromosome numbers in Antarctic notothenioid fish. Most notothenioids have 24 haploid chromosomes, but bullhead notothen (Notothenia coriiceps) has 11. To understand mechanisms, we made a RAD-tag meiotic map with ∼10,000 polymorphic markers. Comparative genomics aligned about a thousand orthologs of platyfish and stickleback genes along bullhead chromosomes. Results revealed that 9 of 11 bullhead chromosomes arose by fusion of just two ancestral chromosomes and two others by fusion of three ancestral chromosomes. All markers from each ancestral chromosome remained contiguous, implying no inversions across fusion borders. Karyotype comparisons support a history of: (1) Robertsonian fusions of 22 ancestral chromosomes in pairs to yield 11 fused plus two small unfused chromosomes, like N. angustata; (2) fusion of one of the remaining two ancestral chromosomes to a preexisting fused pair, giving 12 chromosomes like N. rossii; and (3) fusion of the remaining ancestral chromosome to another fused pair, giving 11 chromosomes in N. coriiceps. These results raise the question of what selective forces promoted the systematic fusion of chromosomes in pairs and the suppression of pericentric inversions in this lineage, and provide a model for chromosome fusions in stem teleosts. PMID:28576775

  18. Effect of low doses of estradiol and tamoxifen on breast cancer cell karyotypes

    PubMed Central

    Rondón-Lagos, Milena; Rangel, Nelson; Di Cantogno, Ludovica Verdun; Annaratone, Laura; Castellano, Isabella; Russo, Rosalia; Manetta, Tilde

    2016-01-01

    Evidence supports a role of 17&-estradiol (E2) in carcinogenesis and the large majority of breast carcinomas are dependent on estrogen. The anti-estrogen tamoxifen (TAM) is widely used for both treatment and prevention of breast cancer; however, it is also carcinogenic in human uterus and rat liver, highlighting the profound complexity of its actions. The nature of E2- or TAM-induced chromosomal damage has been explored using relatively high concentrations of these agents, and only some numerical aberrations and chromosomal breaks have been analyzed. This study aimed to determine the effects of low doses of E2 and TAM (10&8 mol L&1 and 10&6 mol L&1 respectively) on karyotypes of MCF7, T47D, BT474, and SKBR3 breast cancer cells by comparing the results of conventional karyotyping and multi-FISH painting with cell proliferation. Estrogen receptor (ER)-positive (+) cells showed an increase in cell proliferation after E2 treatment (MCF7, T47D, and BT474) and a decrease after TAM treatment (MCF7 and T47D), whereas in ER& cells (SKBR3), no alterations in cell proliferation were observed, except for a small increase at 96 h. Karyotypes of both ER+ and ER& breast cancer cells increased in complexity after treatments with E2 and TAM leading to specific chromosomal abnormalities, some of which were consistent throughout the treatment duration. This genotoxic effect was higher in HER2+ cells. The ER&/HER2+ SKBR3 cells were found to be sensitive to TAM, exhibiting an increase in chromosomal aberrations. These in vitro results provide insights into the potential role of low doses of E2 and TAM in inducing chromosomal rearrangements in breast cancer cells. PMID:27357940

  19. 46 XX karyotype during male fertility evaluation; case series and literature review.

    PubMed

    Majzoub, Ahmad; Arafa, Mohamed; Starks, Christopher; Elbardisi, Haitham; Al Said, Sami; Sabanegh, Edmund

    2017-01-01

    Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients' clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using "46 XX man" as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients' mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.

  20. 46 XX karyotype during male fertility evaluation; case series and literature review

    PubMed Central

    Majzoub, Ahmad; Arafa, Mohamed; Starks, Christopher; Elbardisi, Haitham; Al Said, Sami; Sabanegh, Edmund

    2017-01-01

    Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients’ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using “46 XX man” as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients’ mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption. PMID:27297128

  1. Relating switching rates between normal and persister cells to substrate and antibiotic concentrations: a mathematical modelling approach supported by experiments.

    PubMed

    Carvalho, Gabriel; Guilhen, Cyril; Balestrino, Damien; Forestier, Christiane; Mathias, Jean-Denis

    2017-07-21

    We developed and compared two mathematical models of variable phenotypic switching rates between normal and persister cells that depend on substrate concentration and antibiotic presence. They could be used to simulate the formation of persisters in environments with concentration gradients such as biofilms. Our models are extensions of a previous model of the dynamics of normal and persistent cell populations developed by Balaban et al. (2004, Science 305: 1622). We calibrated the models' parameters with experimental killing curves obtained after ciprofloxacin treatment of samples regularly harvested from planktonic batch cultures of Klebsiella pneumoniae. Our switching models accurately reproduced the dynamics of normal and persistent populations in planktonic batch cultures and under antibiotic treatment. Results showed that the models are valid for a large range of substrate concentrations and for zero or high doses of antibiotics. © 2017 The Authors. Microbial Biotechnology published by John Wiley & Sons Ltd and Society for Applied Microbiology.

  2. Salvage of fetal karyotype information from SNP array data obtained from products of conception with maternal cell contamination.

    PubMed

    Sasaki, Karin; Abe, Kosei; Mori, Takahide; Hashimoto, Kazunori; Nakabayashi, Kazuhiko

    2017-08-01

    Maternal cell contamination (MCC) is known to increase the risk of misdiagnosis in prenatal diagnosis as well as in diagnostic tests for the products of conception (POC) from miscarriages. We aimed to develop a data correction method to salvage fetal karyotype information from single-nucleotide polymorphism (SNP) array data for POC with MCC when parental genotype data are available. We obtained SNP array data from mixed genomic DNAs of a mother-child pair and used the dataset to assess the accuracy of data correction. We subsequently applied our method to miscarriage specimens with MCC. We adopted a linear interpolation model as a data correction method and implemented the method in an R package, snpsal. We successfully determined the fetal karyotypes of two miscarriage specimens that were previously undiagnosed due to MCC to be normal in one case and trisomy 16 in the other case using snpsal. The R package, snpsal, developed in this study facilitates rapid and accurate estimation of the fetal karyotype from SNP array data for POC with MCC. © 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

  3. Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer.

    PubMed

    Li, Xihong; Ouyang, Yan; Yi, Yan; Tan, Yueqiu; Lu, Guangxiu

    2017-01-01

    The purpose of the study is to evaluate the correlation between ultrasound findings and abnormal karyotypes in early pregnancy losses (EPLs) after in vitro fertilization-embryo transfer (IVF-ET). This retrospective analysis assessed 2172 cases of EPL after IVF-ET occurring between January 2008 and December 2013. The cases were examined via transvaginal ultrasonography (TVS). Embryonic tissue karyotyping following miscarriage was performed using a comparative genomic hybridization (CGH) analysis with fluorescence in situ hybridization (FISH). The correlations between the ultrasound findings and the karyotypes were evaluated. Six categories of ultrasound findings were observed: normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth. The overall rate of abnormal karyotypes was 44.9 % (976/2172), and the rate of abnormal karyotypes associated with a normal ultrasound, empty sac, yolk sac only, small gestational sac, small embryonic pole, and early symmetrical arrested growth was 49.5 % (218/440), 28.1 % (138/491), 43.4 % (197/454), 50.0 % (43/86), 49.8 % (155/311), and 57.7 % (225/390), respectively. Compared with the other groups, the prevalence of chromosomal abnormalities was significantly higher in the early symmetrical arrested growth group but was markedly lower in the empty sac group in all cases and when cases of 46,XX were excluded (p < 0.05). Trisomy 16 was the most common chromosomal abnormality in the yolk sac only, small embryonic pole and early symmetrical arrested growth groups. In the empty sac, small gestational sac and normal ultrasound groups, monosomy X was the most frequent abnormality. Chromosomal anomalies may be associated with specific types of ultrasound findings in EPLs after IVF-ET.

  4. Chromosome numbers and karyotype evolution in holoparasitic Orobanche (Orobanchaceae) and related genera

    USGS Publications Warehouse

    Schneeweiss, G.M.; Palomeque, T.; Colwell, A.E.; Weiss-Schneeweiss, H.

    2004-01-01

    Chromosome numbers and karyotypes of species of Orobanche, Cistanche, and Diphelypaea (Orobanchaceae) were investigated, and 108 chromosome counts of 53 taxa, 19 counted for the first time, are presented with a thorough compilation of previously published data. Additionally, karyotypes of representatives of these genera, including Orobanche sects. Orobanche and Trionychon, are reported. Cistanche (x = 20) has large meta- to submetacentric chromosomes, while those of Diphelypaea (x = 19) are medium-sized submeta-to acrocentrics. Within three analyzed sections of Orobanche, sects. Myzorrhiza (x = 24) and Trionychon (x = 12) possess medium-sized submeta- to acrocentrics, while sect. Orobanche (x = 19) has small, mostly meta- to submetacentric, chromosomes. Polyploidy is unevenly distributed in Orobanche and restricted to a few lineages, e.g., O. sect. Myzorrhiza or Orobanche gracilis and its relatives (sect. Orobanche). The distribution of basic chromosome numbers supports the groups found by molecular phylogenetic analyses: Cistanche has x = 20, the Orobanche-group (Orobanche sect. Orobanche, Diphelypaea) has x = 19, and the Phelipanche-group (Orobanche sects. Gymnocaulis, Myzorrhiza, Trionychon) has x = 12, 24. A model of chromosome number evolution in Orobanche and related genera is presented: from two ancestral base numbers, xh = 5 and xh = 6, independent polyploidizations led to x = 20 (Cistanche) and (after dysploidization) x = 19 (Orobanche-group) and to x = 12 and x = 24 (Phelipanche-group), respectively.

  5. The evolutionary history of the two karyotypic groups of the common shrew, Sorex araneus, in Poland.

    PubMed

    Ratkiewicz, M; Fedyk, S; Banaszek, A; Gielly, L; Chetnicki, W; Jadwiszczak, K; Taberlet, P

    2002-04-01

    Genetic variability within and among two karyotypic groups and five chromosome races of the common shrew (Sorex araneus) in Poland was assayed by sequencing a 1023 bp part of the cytochrome b gene (mtDNA) from 28 individuals. Thirty-four variable positions defined 21 distinct haplotypes with a maximum sequence divergence of 0.88%. No significant differentiation in the cytochrome b gene between Western and Eastern Karyotypic groups was found. Haplotype diversity estimates within the races and groups sampled were high (h = 0.800-0.928), while nucleotide diversity estimates were low (pi = 0.0034-0.0053). The distribution of pairwise nucleotide differences fits well with expectations of a "sudden expansion" model. High haplotype diversity was accompanied by relatively high expected heterozygosity (H(E)) values in nuclear genes (calculated over 47 enzyme loci: H(E) = 0.031 - 0.049), giving no evidence for a recent bottleneck after the process of post-Pleistocene recolonization of Poland by the shrews. Thus, for S. araneus chromosome races in Poland, the data on the cytochrome b gene variability support the hypothesis assuming the Robertsonian fusions having spread into an ancestral acrocentric distribution.

  6. Evaluation of an automated karyotyping system for chromosome aberration analysis

    NASA Technical Reports Server (NTRS)

    Prichard, Howard M.

    1987-01-01

    Chromosome aberration analysis is a promising complement to conventional radiation dosimetry, particularly in the complex radiation fields encountered in the space environment. The capabilities of a recently developed automated karyotyping system were evaluated both to determine current capabilities and limitations and to suggest areas where future development should be emphasized. Cells exposed to radiometric chemicals and to photon and particulate radiation were evaluated by manual inspection and by automated karyotyping. It was demonstrated that the evaluated programs were appropriate for image digitization, storage, and transmission. However, automated and semi-automated scoring techniques must be advanced significantly if in-flight chromosome aberration analysis is to be practical. A degree of artificial intelligence may be necessary to realize this goal.

  7. Assignment of genes to Leishmania infantum chromosomes: karyotype and ploidy.

    PubMed

    Soto, M; Requena, J M; Moreira, D; Alonso, C

    1995-06-01

    The use of various pulsed-field electrophoresis methodologies under different conditions allowed us to determine the Leishmania infantum karyotype. A total of 25 chromosomal bands ranging in size from 375 to 3300 kb were resolved amounting to a minimum genomic DNA mass of about 2.6 x 10(7) pb. By molecular hybridization and on the basis of the karyotype, specific gene sequences could be assigned to particular chromosomes. A bias in the chromosomal distribution of different markers was found since 9 out of the 12 analysed gene markers hybridize with chromosomal bands XIXa and XIXb. We infer that chromosomal bands XIXa and XIXb, differing in about 30 kb, could be representing a pair of homologous chromosomes and that another pair of homologs may be also defined by chromosomal bands XVII and XVIII.

  8. Reproductive Strategies and Karyotype of the Burrowing Nematode, Radopholus similis.

    PubMed

    Kaplan, D T; Opperman, C H

    2000-06-01

    Karyotype, gametogenesis, and gonad morphology were characterized for 56 Radopholus spp. isolates collected from Africa, Australia, Central America, Cuba, Dominican Republic, Guadeloupe, Puerto Rico, North America (Florida), and Hawaii. Seven of the isolates, all collected from Florida, were citrus-parasitic. The haploid karyotype for all isolates was n = 5, and gonad organization was similar for each. Furthermore, reproduction did not involve parthenogenesis. Initially, spermatids were produced in young adult females and accumulated in the spermatheca prior to differentiation to sperm. At the cessation of spermatogenesis, oogenesis began and continued for the remainder of the nematode's life. Oocytes first entered a mitotic phase, then a transition zone, and remained in pachytene until they reached the proximal end of the ovary. Thus, Radopholus can reproduce as a hermaphrodite when amphigony does not occur. The gonad is actually an ovatestis.

  9. From karyotyping to array-CGH in prenatal diagnosis.

    PubMed

    Lichtenbelt, K D; Knoers, N V A M; Schuring-Blom, G H

    2011-01-01

    Conventional karyotyping detects chromosomal anomalies in up to 35% of pregnancies with fetal ultrasound anomalies, depending on the number and type of these anomalies. Extensive experience gained in the past decades has shown that prenatal karyotyping is a robust technique which can detect the majority of germline chromosomal anomalies. For most of these anomalies the phenotype is known. In postnatal diagnosis of patients with congenital anomalies and intellectual disability, array-CGH/SNP array has become the first-tier investigation. The higher abnormality detection yield and its amenability to automation renders array-CGH also suitable for prenatal diagnosis. As both findings of unclear significance and unexpected findings may be detected, studies on the outcome of array-CGH in prenatal diagnosis were initially performed retrospectively. Recently, prospective application of array-CGH in pregnancies with ultrasound anomalies, and to a lesser extent in pregnancies referred for other reasons, was studied. Array-CGH showed an increased diagnostic yield compared to karyotyping, varying from 1-5%, depending on the reason for referral. Knowledge of the spectrum of array-CGH anomalies detected in the prenatal setting will increase rapidly in the years to come, thus facilitating pre- and posttest counseling. Meanwhile, new techniques like non-invasive prenatal diagnosis are emerging and will claim their place. In this review, we summarize the outcome of studies on prenatal array-CGH, the clinical relevance of differences in detection rate and range as compared to standard karyotyping, and reflect on the future integration of new molecular techniques in the workflow of prenatal diagnosis. Copyright © 2011 S. Karger AG, Basel.

  10. A case of complete testicular feminisation and 47,XXY karyotype.

    PubMed Central

    Gerli, M; Migliorini, G; Bocchini, V; Venti, G; Ferrarese, R; Donti, E; Rosi, G

    1979-01-01

    A very rare case of complete testicular feminisation with a 47,XXY sex chromosome complement is described. The X-chromatin is positive. The subject studied, who belongs to a family in which four other members have Morris's syndrome and have a 46,XY karyotype, is a perfect phenotypic female. The endocrine situation is unique and resembles, in part, that of subjects with Klinefelter's syndrome. Images PMID:575389

  11. Structure of the eukaryotic chromosome and the karyotype

    SciTech Connect

    1993-12-31

    The second chapter of `Human Chromosomes: Structure, Behavior, and Effects` provides information on the structure of the eukaryotic chromosome (chromosomes or higher organisms) and the karyotype. Chromosome size, shape, and number are discussed, as are banding techniques. Euploid and aneuploid changes in chromosomes (changes in the number of sets of chromosomes or the number of individual chromosomes) are also discussed. 12 refs., 4 figs., 1 tab.

  12. Karyotype and genome size in Euterpe Mart. (Arecaceae) species

    PubMed Central

    Oliveira, Ludmila Cristina; de Oliveira, Maria do Socorro Padilha; Davide, Lisete Chamma; Torres, Giovana Augusta

    2016-01-01

    Abstract Euterpe (Martius, 1823), a genus from Central and South America, has species with high economic importance in Brazil, because of their palm heart and fruits, known as açaí berries. Breeding programs have been conducted to increase yield and establish cultivation systems to replace the extraction of wild material. These programs need basic information about the genome of these species to better explore the available genetic variability. The aim of this study was to compare Euterpe edulis (Martius, 1824), Euterpe oleracea (Martius, 1824) and Euterpe precatoria (Martius, 1842), with regard to karyotype, type of interphase nucleus and nuclear DNA amount. Metaphase chromosomes and interphase nuclei from root tip meristematic cells were obtained by the squashing technique and solid stained for microscope analysis. The DNA amount was estimated by flow cytometry. There were previous reports on the chromosome number of Euterpe edulis and Euterpe oleracea, but chromosome morphology of these two species and the whole karyotype of Euterpe precatoria are reported for the first time. The species have 2n=36, a number considered as a pleisomorphic feature in Arecoideae since the modern species, according to floral morphology, have the lowest chromosome number (2n=28 and 2n=30). The three Euterpe species also have the same type of interphase nuclei, classified as semi-reticulate. The species differed on karyotypic formulas, on localization of secondary constriction and genome size. The data suggest that the main forces driving Euterpe karyotype evolution were structural rearrangements, such as inversions and translocations that alter chromosome morphology, and either deletion or amplification that led to changes in chromosome size. PMID:27186334

  13. Karyotype and genome size in Euterpe Mart. (Arecaceae) species.

    PubMed

    Oliveira, Ludmila Cristina; de Oliveira, Maria do Socorro Padilha; Davide, Lisete Chamma; Torres, Giovana Augusta

    2016-01-01

    Euterpe (Martius, 1823), a genus from Central and South America, has species with high economic importance in Brazil, because of their palm heart and fruits, known as açaí berries. Breeding programs have been conducted to increase yield and establish cultivation systems to replace the extraction of wild material. These programs need basic information about the genome of these species to better explore the available genetic variability. The aim of this study was to compare Euterpe edulis (Martius, 1824), Euterpe oleracea (Martius, 1824) and Euterpe precatoria (Martius, 1842), with regard to karyotype, type of interphase nucleus and nuclear DNA amount. Metaphase chromosomes and interphase nuclei from root tip meristematic cells were obtained by the squashing technique and solid stained for microscope analysis. The DNA amount was estimated by flow cytometry. There were previous reports on the chromosome number of Euterpe edulis and Euterpe oleracea, but chromosome morphology of these two species and the whole karyotype of Euterpe precatoria are reported for the first time. The species have 2n=36, a number considered as a pleisomorphic feature in Arecoideae since the modern species, according to floral morphology, have the lowest chromosome number (2n=28 and 2n=30). The three Euterpe species also have the same type of interphase nuclei, classified as semi-reticulate. The species differed on karyotypic formulas, on localization of secondary constriction and genome size. The data suggest that the main forces driving Euterpe karyotype evolution were structural rearrangements, such as inversions and translocations that alter chromosome morphology, and either deletion or amplification that led to changes in chromosome size.

  14. A Fluorescence in Situ Hybridization System for Karyotyping Soybean

    PubMed Central

    Findley, Seth D.; Cannon, Steven; Varala, Kranthi; Du, Jianchang; Ma, Jianxin; Hudson, Matthew E.; Birchler, James A.; Stacey, Gary

    2010-01-01

    The development of a universal soybean (Glycine max [L.] Merr.) cytogenetic map that associates classical genetic linkage groups, molecular linkage groups, and a sequence-based physical map with the karyotype has been impeded due to the soybean chromosomes themselves, which are small and morphologically homogeneous. To overcome this obstacle, we screened soybean repetitive DNA to develop a cocktail of fluorescent in situ hybridization (FISH) probes that could differentially label mitotic chromosomes in root tip preparations. We used genetically anchored BAC clones both to identify individual chromosomes in metaphase spreads and to complete a FISH-based karyotyping cocktail that permitted simultaneous identification of all 20 chromosome pairs. We applied these karyotyping tools to wild soybean, G. soja Sieb. and Zucc., which represents a large gene pool of potentially agronomically valuable traits. These studies led to the identification and characterization of a reciprocal chromosome translocation between chromosomes 11 and 13 in two accessions of wild soybean. The data confirm that this translocation is widespread in G. soja accessions and likely accounts for the semi-sterility found in some G. soja by G. max crosses. PMID:20421607

  15. Sex Determination, Sex Chromosomes, and Karyotype Evolution in Insects.

    PubMed

    Blackmon, Heath; Ross, Laura; Bachtrog, Doris

    2017-01-01

    Insects harbor a tremendous diversity of sex determining mechanisms both within and between groups. For example, in some orders such as Hymenoptera, all members are haplodiploid, whereas Diptera contain species with homomorphic as well as male and female heterogametic sex chromosome systems or paternal genome elimination. We have established a large database on karyotypes and sex chromosomes in insects, containing information on over 13000 species covering 29 orders of insects. This database constitutes a unique starting point to report phylogenetic patterns on the distribution of sex determination mechanisms, sex chromosomes, and karyotypes among insects and allows us to test general theories on the evolutionary dynamics of karyotypes, sex chromosomes, and sex determination systems in a comparative framework. Phylogenetic analysis reveals that male heterogamety is the ancestral mode of sex determination in insects, and transitions to female heterogamety are extremely rare. Many insect orders harbor species with complex sex chromosomes, and gains and losses of the sex-limited chromosome are frequent in some groups. Haplodiploidy originated several times within insects, and parthenogenesis is rare but evolves frequently. Providing a single source to electronically access data previously distributed among more than 500 articles and books will not only accelerate analyses of the assembled data, but also provide a unique resource to guide research on which taxa are likely to be informative to address specific questions, for example, for genome sequencing projects or large-scale comparative studies. © The American Genetic Association 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  16. The Ancestral Eutherian Karyotype Is Present in Xenarthra

    PubMed Central

    Svartman, Marta; Stone, Gary; Stanyon, Roscoe

    2006-01-01

    Molecular studies have led recently to the proposal of a new super-ordinal arrangement of the 18 extant Eutherian orders. From the four proposed super-orders, Afrotheria and Xenarthra were considered the most basal. Chromosome-painting studies with human probes in these two mammalian groups are thus key in the quest to establish the ancestral Eutherian karyotype. Although a reasonable amount of chromosome-painting data with human probes have already been obtained for Afrotheria, no Xenarthra species has been thoroughly analyzed with this approach. We hybridized human chromosome probes to metaphases of species (Dasypus novemcinctus, Tamandua tetradactyla, and Choloepus hoffmanii) representing three of the four Xenarthra families. Our data allowed us to review the current hypotheses for the ancestral Eutherian karyotype, which range from 2n = 44 to 2n = 48. One of the species studied, the two-toed sloth C. hoffmanii (2n = 50), showed a chromosome complement strikingly similar to the proposed 2n = 48 ancestral Eutherian karyotype, strongly reinforcing it. PMID:16848642

  17. A comparative study on karyotypic diversification rate in mammals.

    PubMed

    Martinez, P A; Jacobina, U P; Fernandes, R V; Brito, C; Penone, C; Amado, T F; Fonseca, C R; Bidau, C J

    2017-04-01

    Chromosomal rearrangements have a relevant role in organismic evolution. However, little is known about the mechanisms that lead different phylogenetic clades to have different chromosomal rearrangement rates. Here, we investigate the causes behind the wide karyotypic diversity exhibited by mammals. In particular, we analyzed the role of metabolic, reproductive, biogeographic and genomic characteristics on the rates of macro- and microstructural karyotypic diversification (rKD) using comparative phylogenetic methods. We found evidence that reproductive characteristics such as larger litter size per year and longevity, by allowing a higher number of meioses in absolute time, favor a higher probability of chromosomal change. Furthermore, families with large geographic distributions but containing species with restricted geographic ranges showed a greater probability of fixation of macrostructural chromosomal changes in different geographic areas. Finally, rKD does not evolve by Brownian motion because the mutation rate depends on the concerted evolution of repetitive sequences. The decisive factors of rKD evolution will be natural selection, genetic drift and meiotic drive that will eventually allow or not the fixation of the rearrangements. Our results indicate that mammalian karyotypic diversity is influenced by historical and adaptive mechanisms where reproductive and genomic factors modulate the rate of chromosomal change.

  18. The ancestral eutherian karyotype is present in Xenarthra.

    PubMed

    Svartman, Marta; Stone, Gary; Stanyon, Roscoe

    2006-07-01

    Molecular studies have led recently to the proposal of a new super-ordinal arrangement of the 18 extant Eutherian orders. From the four proposed super-orders, Afrotheria and Xenarthra were considered the most basal. Chromosome-painting studies with human probes in these two mammalian groups are thus key in the quest to establish the ancestral Eutherian karyotype. Although a reasonable amount of chromosome-painting data with human probes have already been obtained for Afrotheria, no Xenarthra species has been thoroughly analyzed with this approach. We hybridized human chromosome probes to metaphases of species (Dasypus novemcinctus, Tamandua tetradactyla, and Choloepus hoffmanii) representing three of the four Xenarthra families. Our data allowed us to review the current hypotheses for the ancestral Eutherian karyotype, which range from 2n = 44 to 2n = 48. One of the species studied, the two-toed sloth C. hoffmanii (2n = 50), showed a chromosome complement strikingly similar to the proposed 2n = 48 ancestral Eutherian karyotype, strongly reinforcing it.

  19. Mosaic 35,X/36,XY karyotype and intersex in a red panda (Ailurus fulgens fulgens).

    PubMed

    Reddacliff, G L; Halnan, C R; Martin, I C

    1993-01-01

    A zoo-bred Himalayan red panda (Ailurus fulgens fulgens) was diagnosed as a presumptive intersex on clinical examination at 4-mo-of-age. The phenotype was predominantly female but showed a large anogenital distance and bilateral ischial swellings. Based on cytogenetic evaluation, the karyotype was mos35,X/36,XY, with 50% of each cell type. A grossly normal uterus and oviducts were seen with laparoscopic examination, while the gonads were smooth-surfaced, with a ramifying vascular pattern. On histopathologic examination the bulk of the gonads consisted of clumps of poorly differentiated cells, with just a thin rim of ovarian tissue under the region covered by the fimbriae of the oviduct.

  20. Selective karyotyping in recurrent miscarriage: are recommended guidelines adopted in daily clinical practice?

    PubMed

    van den Boogaard, E; Hermens, R P M G; Verhoeve, H R; Kremer, J A M; van der Veen, F; Knegt, A C; Goddijn, M

    2011-08-01

    Couples with recurrent miscarriage (RM) have an increased risk of one of the partners carrying a structural chromosome abnormality. On the basis of four independent risk factors, an evidence-based model was developed, which allows limiting karyotyping to high-risk couples. The aim of this study was to assess the level of adoption of selective karyotyping, its clinical consequences and the factors at the patient and hospital level that determine adoption. A retrospective cohort study was performed in nine Departments of Obstetrics and Gynaecology, the Netherlands, in 2006. Selective karyotyping was defined as offering karyotyping to high-risk couples and refraining from karyotyping in low-risk couples. Data were collected for risk factors as described in the model for selective karyotyping, cytogenetic results as a measure for clinical consequences, and information about determinants and costs. A total of 530 couples were included; 252 (48%) high-risk couples and 278 (52%) low-risk couples. Among the high-risk couples, 186 (74%) were offered karyotyping. Although not advised, karyotyping was still performed in 198 (71%) low-risk couples. Overall, selective karyotyping was offered to 50% of the couples. The main determinants for adoption of the model were maternal age, obstetric history, treatment by specialists in RM and the number of patients per centre. If selective karyotyping was adopted adequately, a potential reduction of 34% of all karyotyping tests performed is possible. Selective karyotyping is applied in only half of the couples with RM in daily practice. Implementation of selective karyotyping should be a topic of future research.

  1. [Correlation of chromosome karyotype with dyshaematopoiesis and reticulin in myelodysplastic syndrome].

    PubMed

    Cheng, Yan-Chao; Sun, Hui; Gan, Si-Lin; Liu, Yan-Fang; Xie, Xin-Sheng; Zhang, Qiu-Tang; Li, Tao; Gao, Juan

    2013-04-01

    This study was purposed to explore the correlation of chromosome karyotype with dyshaematopoiesis and reticulin in myelodysplastic syndrome (MDS). The data of 202 MDS patients diagnosed and treated in the First Affiliated Hospital of Zhengzhou University were retrospectively analyzed in term of chromosome karyotype, dyshaematopoiesis and reticulin detection results. The chromosome karyotypes were categorized according to the International Prognostic Scoring System (IPSS). The results showed that there was a positive correlation between chromosome karyotype grading and number of lineages with dyshaematopoiesis (r = 0.443, P < 0.05). The detected rates of multilineage dyshaematopoiesis in patients with good, intermediate and poor chromosome karyotypes were 44.4%, 71.4% and 96.3% respectively. There was a positive correlation between chromosome karyotype grading and reticulin grading (r = 0.451, P < 0.05). The positive rates of reticulin in patients with good grading, intermediate and poor chromosome karyotypes were 36.8%, 64.3% and 92.6% respectively. The detected rate of multilineage dyshaematopoiesis, number of lineages with dyshaematopoiesis, the positive rate of reticulin and reticulin grade in patients with poor karyotypes were higher than those in patients with intermediate or good chromosome karyotypes (separately P < 0.01). The above data in patients with intermediate chromosome karyotypes were higher than those in patients with good chromosome karyotypes (separately P < 0.01). It is concluded that the chromosome karyotype grading positively correlates with the number of lineages with dyshaematopoiesis and reticulin grading. When the chromosome karyotype changed from good to poor, the detected rate of multilineage dyshaematopoiesis, number of lineages with dyshaematopoiesis, positive rate of reticulin and reticulin grading became higher and higher.

  2. Comparison of the puborectal muscle on MRI in women with POP and levator ani defects with those with normal support and no defect

    PubMed Central

    DeLancey, John O. L.; Sørensen, Helle Christina; Lewicky-Gaupp, Christina

    2012-01-01

    Introduction and hypothesis The objective of this study was to compare puborectal muscle integrity and bulk in women with both major levator ani (LA) defects on MRI and pelvic organ prolapse (POP) to women with normal LA muscle and normal support. Methods This is a case-control study comparing 24 cases with known major LA defects and POP to 24 controls with normal LA and normal support. Axial T-2 weighted MRI scans of the pelvis were evaluated for integrity of the puborectal muscle and degree of muscle bulk. Results There were no significant group differences in age, body mass index, vaginal deliveries, or hysterectomy status. In all 48 subjects, the puborectal muscle was visible and had no disruption noted. There was no difference in muscle bulk between groups (control/case, thin 42% vs. 25%, average 42% vs. 38%, thick-17% vs. 38%; P=0.47). Conclusions Defects and loss of muscle bulk in the puborectal muscle are not seen on MRI in women with major LA defects and POP. PMID:21822711

  3. Comparative evaluation of the Minimally-Invasive Karyotyping (MINK) algorithm for non-invasive prenatal testing.

    PubMed

    Chu, Tianjiao; Shaw, Patricia A; Yeniterzi, Suveyda; Dunkel, Mary; Rajkovic, Aleksander; Hogge, W Allen; Bunce, Kimberly D; Peters, David G

    2017-01-01

    Minimally Invasive Karyotyping (MINK) was communicated in 2009 as a novel method for the non-invasive detection of fetal copy number anomalies in maternal plasma DNA. The original manuscript illustrated the potential of MINK using a model system in which fragmented genomic DNA obtained from a trisomy 21 male individual was mixed with that of his karyotypically normal mother at dilutions representing fetal fractions found in maternal plasma. Although it has been previously shown that MINK is able to non-invasively detect fetal microdeletions, its utility for aneuploidy detection in maternal plasma has not previously been demonstrated. The current study illustrates the ability of MINK to detect common aneuploidy in early gestation, compares its performance to other published third party methods (and related software packages) for prenatal aneuploidy detection and evaluates the performance of these methods across a range of sequencing read inputs. Plasma samples were obtained from 416 pregnant women between gestational weeks 8.1 and 34.4. Shotgun DNA sequencing was performed and data analyzed using MINK RAPIDR and WISECONDOR. MINK performed with greater accuracy than RAPIDR and WISECONDOR, correctly identifying 60 out of 61 true trisomy cases, and reporting only one false positive in 355 normal pregnancies. Significantly, MINK achieved accurate detection of trisomy 21 using just 2 million aligned input reads, whereas WISECONDOR required 6 million reads and RAPIDR did not achieve complete accuracy at any read input tested. In conclusion, we demonstrate that MINK provides an analysis pipeline for the detection of fetal aneuploidy in samples of maternal plasma DNA.

  4. Comparative evaluation of the Minimally-Invasive Karyotyping (MINK) algorithm for non-invasive prenatal testing

    PubMed Central

    Chu, Tianjiao; Shaw, Patricia A.; Yeniterzi, Suveyda; Dunkel, Mary; Rajkovic, Aleksander; Hogge, W. Allen; Bunce, Kimberly D.; Peters, David G.

    2017-01-01

    Minimally Invasive Karyotyping (MINK) was communicated in 2009 as a novel method for the non-invasive detection of fetal copy number anomalies in maternal plasma DNA. The original manuscript illustrated the potential of MINK using a model system in which fragmented genomic DNA obtained from a trisomy 21 male individual was mixed with that of his karyotypically normal mother at dilutions representing fetal fractions found in maternal plasma. Although it has been previously shown that MINK is able to non-invasively detect fetal microdeletions, its utility for aneuploidy detection in maternal plasma has not previously been demonstrated. The current study illustrates the ability of MINK to detect common aneuploidy in early gestation, compares its performance to other published third party methods (and related software packages) for prenatal aneuploidy detection and evaluates the performance of these methods across a range of sequencing read inputs. Plasma samples were obtained from 416 pregnant women between gestational weeks 8.1 and 34.4. Shotgun DNA sequencing was performed and data analyzed using MINK RAPIDR and WISECONDOR. MINK performed with greater accuracy than RAPIDR and WISECONDOR, correctly identifying 60 out of 61 true trisomy cases, and reporting only one false positive in 355 normal pregnancies. Significantly, MINK achieved accurate detection of trisomy 21 using just 2 million aligned input reads, whereas WISECONDOR required 6 million reads and RAPIDR did not achieve complete accuracy at any read input tested. In conclusion, we demonstrate that MINK provides an analysis pipeline for the detection of fetal aneuploidy in samples of maternal plasma DNA. PMID:28306738

  5. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis.

    PubMed

    Hillman, S C; Pretlove, S; Coomarasamy, A; McMullan, D J; Davison, E V; Maher, E R; Kilby, M D

    2011-01-01

    Array comparative genomic hybridization (CGH) is transforming clinical cytogenetics with its ability to interrogate the human genome at increasingly high resolution. The aim of this study was to determine whether array CGH testing in the prenatal population provides diagnostic information over conventional karyotyping. MEDLINE (1970 to December 2009), EMBASE (1980 to December 2009) and CINAHL (1982 to December 2009) databases were searched electronically. Studies were selected if array CGH was used on prenatal samples or if array CGH was used on postnatal samples following termination of pregnancy for structural abnormalities that were detected on an ultrasound scan. Of the 135 potential articles, 10 were included in this systematic review and eight were included in the meta-analysis. The pooled rate of extra information detected by array CGH when the prenatal karyotype was normal was meta-analyzed using a random-effects model. The pooled rate of receiving an array CGH result of unknown significance was also meta-analyzed. Array CGH detected 3.6% (95% CI, 1.5-8.5) additional genomic imbalances when conventional karyo-typing was 'normal', regardless of referral indication. This increased to 5.2% (95% CI, 1.9-13.9) more than karyotyping when the referral indication was a structural malformation on ultrasound. There appears to be an increased detection rate of chromosomal imbalances, compared with conventional karyotyping, when array CGH techniques are employed in the prenatal population. However, some are copy number imbalances that are not clinically significant. This carries implications for prenatal counseling and maternal anxiety.

  6. Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification.

    PubMed

    Deshpande, Maitreyee; Harper, Joyce; Holloway, Melissa; Palmer, Rodger; Wang, Rubin

    2010-06-01

    The aim of this study was to evaluate the use of array comparative genomic hybridization (aCGH) for genetic analysis of chorionic villus sampling (CVS) from pregnancy loss. aCGH results were compared with results from karyotyping and multiplex ligation-dependent probe amplification (MLPA) analysis to assess the suitability of aCGH as a method for detecting a variety of known chromosomal abnormalities. It was determined which technique gave the most valuable information. Twenty anonymised samples from CVS were analyzed by aCGH, MLPA, and karyotyping. Ten cases were identified as normal by all three methods. Aneuploidy was detected in four cases by all three methods. Partial deletion and duplication was detected in two cases by aCGH and karyotyping but missed by MLPA. In addition, mosaicism was detected by aCGH in 3 of 20 cases missed by MLPA and karyotyping. aCGH is a rapid, automated, reliable, high-resolution technique to diagnose unbalanced chromosomal abnormalities. In this study, aCGH analysis accurately identified all chromosomal abnormalities in CVS from pregnancy loss, suggesting that it is suitable in the clinical setting for prenatal diagnosis.

  7. Prenatal diagnosis of a partial trisomy 13q (q14-->qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization.

    PubMed

    Machado, I N; Heinrich, J K; Campanhol, C; Rodrigues-Peres, R M; Oliveira, F M; Barini, R

    2010-03-16

    Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and array comparative genomic hybridization (aCGH) analysis of fetal blood were performed. Cytogenetic analysis of fetal blood displayed 46,XX,add(4)(q28). The parental karyotypes were normal. A girl was delivered at 34 weeks gestation; she died within 2 h. Autopsy confirmed all the prenatal findings and also showed agenesis of the diaphragm. Spectral karyotyping identified the additional material's origin as chromosome 13. aCGH was carried out and showed amplification of distal regions of the long arm of chromosome 13 from region 13q14 to qter. This is the first report of a fetus with molecular characterization of a partial trisomy 13q (q14-->qter), present as a de novo unbalanced translocation at chromosome 4q. This case demonstrates the usefulness of molecular characterization of malformed fetuses for prenatal diagnosis and counseling.

  8. [Analysis of chromosomal abnormalities and a report of eight new karyotypes among children in genetic counseling].

    PubMed

    Ou, Shan; Ou, Hui; Tang, Bin; Chen, Shao-Ke; Xu, Yu-Qi; Zheng, Chen-Guang

    2014-07-01

    To study the relationship between abnormal karyotypes and clinical phenotypes among children in genetic counseling in Guangxi Zhuang Autonomous Region, China. We studied 601 children who visited Guangxi Zhuang Autonomous Region Women and Children Care Hospital for genetic counseling between January 2009 and July 2012. Blood samples were cultured routinely for karyotype analysis with G banding as well as clinical analysis. Out of 601 patients, 329 (54.7%) had chromosomal abnormalities, and 8 new abnormal human karyotypes were found. Among 329 children with abnormal karyotypes, 317 (96.4%) had an abnormal number of chromosomes, and 12 (3.6%) had abnormal chromosomal structure. Abnormal karyotypes were clinically manifested by Down's syndrome (74.5%), growth retardation (10.9%), and mental retardation (3.0%). Eight rare abnormal karyotypes were found in the study, providing new resources for the genetic studies and etiological analysis of growth retardation, mental retardation, gonadal dysgenesis, and multiple congenital anomalies in children.

  9. 46,XY/47,XYY/48,XYYY karyotype in a 3-year-old boy ascertained because of radioulnar synostosis

    SciTech Connect

    James, C.; Robson, L.; Jackson, J.

    1995-05-08

    Chromosome analysis was performed on a 3-year-old boy because of bilateral radioulnar synostosis and demonstrated a mosaic karyotype 46,XY/47,XYY/48,XYYY. He had minor facial anomalies and mild intellectual delay. He appears to be the youngest patient reported with this rare chromosome complement. His father, mother, and brother had normal chromosomes. Fluorescence in situ hybridization (FISH) was performed on the propositus and his father with the Y chromosome heterochromatic probe (pHY3.4) to add to the evaluation of mosaicism. 17 refs., 3 figs., 2 tabs.

  10. Semantic Normalization and Query Abstraction Based on SNOMED-CT and HL7: Supporting Multicentric Clinical Trials.

    PubMed

    Paraiso-Medina, Sergio; Perez-Rey, David; Bucur, Anca; Claerhout, Brecht; Alonso-Calvo, Raul

    2015-05-01

    Advances in the use of omic data and other biomarkers are increasing the number of variables in clinical research. Additional data have stratified the population of patients and require that current studies be performed among multiple institutions. Semantic interoperability and standardized data representation are a crucial task in the management of modern clinical trials. In the past few years, different efforts have focused on integrating biomedical information. Due to the complexity of this domain and the specific requirements of clinical research, the majority of data integration tasks are still performed manually. This paper presents a semantic normalization process and a query abstraction mechanism to facilitate data integration and retrieval. A process based on well-established standards from the biomedical domain and the latest semantic web technologies has been developed. Methods proposed in this paper have been tested within the EURECA EU research project, where clinical scenarios require the extraction of semantic knowledge from biomedical vocabularies. The aim of this paper is to provide a novel method to abstract from the data model and query syntax. The proposed approach has been compared with other initiatives in the field by storing the same dataset with each of those solutions. Results show an extended functionality and query capabilities at the cost of slightly worse performance in query execution. Implementations in real settings have shown that following this approach, usable interfaces can be developed to exploit clinical trial data outcomes.

  11. Identification by FISH of 21q22 duplication in patient with Down syndrome and apparent 46,XX karyotype

    SciTech Connect

    Yu, Chih-yu; Anyane-Yeoba, K.; Warburton, D.

    1994-09-01

    Karyotype analysis of a 3-day-old child referred for clinical evaluation of Down syndrome was originally reported as normal 46,XX. The child had many features of Down syndrome, including a leukemoid reaction at birth. Because of the strongly suggestive clinical features, and a slightly unusual appearance of the short arm of one chromosome 21, FISH analysis was carried out using a probe specific for the 21q22.3 region (ONCOR). Signal was seen as expected in the distal long arm of both chromosomes 21, but also in the short arm with the morphological variant. DNA analysis with a number of long arm probes confirmed the presence of duplication of a large portion of band 21q22. Parental karyotypes were normal. The mother of this case had declined amniocentesis. However, it is very likely that routine prenatal chromosome analysis would not have detected the duplication, since the short arm was not strikingly different from many normal variants. Only screening with a 21q22 FISH probe (interphase or metaphase) would have predicted the Down syndrome in this child.

  12. Long-term therapy with the acorn cardiac support device normalizes gene expression of growth factors and gelatinases in dogs with heart failure.

    PubMed

    Rastogi, Sharad; Gupta, Ramesh C; Mishra, Sudhish; Morita, Hideaki; Tanhehco, Elaine J; Sabbah, Hani N

    2005-10-01

    Passive mechanical containment of the failing left ventricle with the Acorn Cardiac Support Device (CSD) was shown to prevent progressive left ventricular dilation in dogs with heart failure and increase left ventricular ejection fraction. To examine possible mechanisms for improved cardiac function with a CSD, we examined the effect of CSD therapy on the mRNA gene expression of vascular endothelial growth factor (VEGF), basic fibroblast growth factor (bFGF), matrix metalloproteinases (MMP) 2 and 9, and tissue inhibitors of metalloproteinases (TIMP) 1 and 2. Heart failure was produced in 12 dogs by multiple sequential intracoronary microembolizations. Six dogs were implanted with the CSD and 6 served as concurrent controls. Left ventricular tissue from 6 normal dogs was used for comparison. Compared with normal dogs, dogs with untreated heart failure showed downregulation of mRNA expression for VEGF and bFGF, whereas upregulation of mRNA expression for MMP-2 and MMP-9 was observed. Normalization of mRNA expression for all these genes was seen after treatment with the CSD. This study shows that preventing left ventricular dilation and myocardial stretch with the CSD promotes normalization of growth factor and MMP gene expression. These results suggest that modulation of gene activity may, in part, contribute to the improvement of left ventricular function observed with CSD therapy.

  13. Chromosomal evolution in tortricid moths: conserved karyotypes with diverged features.

    PubMed

    Síchová, Jindra; Nguyen, Petr; Dalíková, Martina; Marec, František

    2013-01-01

    Moths of the family Tortricidae constitute one of the major microlepidopteran groups in terms of species richness and economic importance. Yet, despite their overall significance, our knowledge of their genome organization is very limited. In order to understand karyotype evolution in the family Tortricidae, we performed detailed cytogenetic analysis of Grapholita molesta, G. funebrana, Lobesia botrana, and Eupoecilia ambiguella, representatives of two main tortricid subfamilies, Olethreutinae and Tortricinae. Besides standard cytogenetic methods, we used fluorescence in situ hybridization for mapping of major rRNA and histone gene clusters and comparative genomic hybridization to determine the level of molecular differentiation of the W and Z sex chromosomes. Our results in combination with available data in the codling moth, Cydia pomonella, and other tortricids allow us a comprehensive reconstruction of chromosomal evolution across the family Tortricidae. The emerging picture is that the karyotype of a common ancestor of Tortricinae and Olethreutinae differentiated from the ancestral lepidopteran chromosome print of n = 31 by a sex chromosome-autosome fusion. This rearrangement resulted in a large neo-sex chromosome pair and a karyotype with n = 30 conserved in most Tortricinae species, which was further reduced to n = 28 observed in Olethreutinae. Comparison of the tortricid neo-W chromosomes showed differences in their structure and composition presumably reflecting stochasticity of molecular degeneration of the autosomal part of the neo-W chromosome. Our analysis also revealed conservative pattern of the histone distribution, which is in contrast with high rDNA mobility. Despite the dynamic evolution of rDNA, we can infer a single NOR-chromosome pair as an ancestral state not only in tortricids but probably in all Lepidoptera. The results greatly expand our knowledge of the genome architecture in tortricids, but also contribute to the

  14. Chromosomal Evolution in Tortricid Moths: Conserved Karyotypes with Diverged Features

    PubMed Central

    Šíchová, Jindra; Nguyen, Petr; Dalíková, Martina; Marec, František

    2013-01-01

    Moths of the family Tortricidae constitute one of the major microlepidopteran groups in terms of species richness and economic importance. Yet, despite their overall significance, our knowledge of their genome organization is very limited. In order to understand karyotype evolution in the family Tortricidae, we performed detailed cytogenetic analysis of Grapholita molesta, G. funebrana, Lobesia botrana, and Eupoecilia ambiguella, representatives of two main tortricid subfamilies, Olethreutinae and Tortricinae. Besides standard cytogenetic methods, we used fluorescence in situ hybridization for mapping of major rRNA and histone gene clusters and comparative genomic hybridization to determine the level of molecular differentiation of the W and Z sex chromosomes. Our results in combination with available data in the codling moth, Cydia pomonella, and other tortricids allow us a comprehensive reconstruction of chromosomal evolution across the family Tortricidae. The emerging picture is that the karyotype of a common ancestor of Tortricinae and Olethreutinae differentiated from the ancestral lepidopteran chromosome print of n = 31 by a sex chromosome-autosome fusion. This rearrangement resulted in a large neo-sex chromosome pair and a karyotype with n = 30 conserved in most Tortricinae species, which was further reduced to n = 28 observed in Olethreutinae. Comparison of the tortricid neo-W chromosomes showed differences in their structure and composition presumably reflecting stochasticity of molecular degeneration of the autosomal part of the neo-W chromosome. Our analysis also revealed conservative pattern of the histone distribution, which is in contrast with high rDNA mobility. Despite the dynamic evolution of rDNA, we can infer a single NOR-chromosome pair as an ancestral state not only in tortricids but probably in all Lepidoptera. The results greatly expand our knowledge of the genome architecture in tortricids, but also contribute to the

  15. Root tip chromosome karyotype analysis of hyacinth cultivars.

    PubMed

    Hu, F R; Liu, H H; Wang, F; Bao, R L; Liu, G X

    2015-09-10

    Karyotype analysis in plants helps to reveal the affinity relationships of species and their genetic evolution. The current study aimed to observe chromosome karyotypes and structures of Hyacinthus orientalis. Twenty hyacinth cultivars were introduced from Holland, and their water-cultivated root tips were used as experimental samples. A solution of colchicine (0.02%) and 8-hydroxyquinoline (0.02 M) was used as a 20-h pre-treatment. Subsequently, Carnot I was used for fixation and 45% acetic acid was used for dissociation. The squash method was selected to prepare chromosome spreads for microscopic observation. The basic chromosome number of the hyacinth cultivar was 8, and the number of chromosomes in the diploid, triploid, tetraploid, and aneuploid cultivars was 16, 23, 24, 31, and 32, respectively. The L-type chromosome was predominant in the chromosomal composition. The hyacinth satellite was located on the short arm in numbers equivalent to the ploidy. This satellite is located on the middle-sized chromosome in the fourth group of chromosomes, demonstrating that Hyacinthus has a more primitive evolution than Lilium and Polygonatum. Among 20 hyacinth cultivars, 'Fondant' had the highest level of evolution and a maximum asymmetric coefficient of 61.69%. Moreover, the ratio between the shortest and longest chromosomes in this cultivar was 4.40, and its karyotype was type 2C. This study may elucidate long-term homonym and synonym phenomena. It may also provide a method of cytological identification as well as direct proof of the high outcross compatibility between hyacinth cultivars.

  16. The genome diversity and karyotype evolution of mammals

    PubMed Central

    2011-01-01

    The past decade has witnessed an explosion of genome sequencing and mapping in evolutionary diverse species. While full genome sequencing of mammals is rapidly progressing, the ability to assemble and align orthologous whole chromosome regions from more than a few species is still not possible. The intense focus on building of comparative maps for companion (dog and cat), laboratory (mice and rat) and agricultural (cattle, pig, and horse) animals has traditionally been used as a means to understand the underlying basis of disease-related or economically important phenotypes. However, these maps also provide an unprecedented opportunity to use multispecies analysis as a tool for inferring karyotype evolution. Comparative chromosome painting and related techniques are now considered to be the most powerful approaches in comparative genome studies. Homologies can be identified with high accuracy using molecularly defined DNA probes for fluorescence in situ hybridization (FISH) on chromosomes of different species. Chromosome painting data are now available for members of nearly all mammalian orders. In most orders, there are species with rates of chromosome evolution that can be considered as 'default' rates. The number of rearrangements that have become fixed in evolutionary history seems comparatively low, bearing in mind the 180 million years of the mammalian radiation. Comparative chromosome maps record the history of karyotype changes that have occurred during evolution. The aim of this review is to provide an overview of these recent advances in our endeavor to decipher the karyotype evolution of mammals by integrating the published results together with some of our latest unpublished results. PMID:21992653

  17. High-throughput karyotyping of human pluripotent stem cells.

    PubMed

    Lund, Riikka J; Nikula, Tuomas; Rahkonen, Nelly; Närvä, Elisa; Baker, Duncan; Harrison, Neil; Andrews, Peter; Otonkoski, Timo; Lahesmaa, Riitta

    2012-11-01

    Genomic integrity of human pluripotent stem cell (hPSC) lines requires routine monitoring. We report here that novel karyotyping assay, utilizing bead-bound bacterial artificial chromosome probes, provides a fast and easy tool for detection of chromosomal abnormalities in hPSC lines. The analysis can be performed from low amounts of DNA isolated from whole cell pools with simple data analysis interface. The method enables routine screening of stem cell lines in a cost-efficient high-throughput manner. Copyright © 2012 Elsevier B.V. All rights reserved.

  18. High-throughput karyotyping of human pluripotent stem cells

    PubMed Central

    Lund, Riikka J.; Nikula, Tuomas; Rahkonen, Nelly; Närvä, Elisa; Baker, Duncan; Harrison, Neil; Andrews, Peter; Otonkoski, Timo; Lahesmaa, Riitta

    2012-01-01

    Genomic integrity of human pluripotent stem cell (hPSC) lines requires routine monitoring. We report here that novel karyotyping assay, utilizing bead-bound bacterial artificial chromosome probes, provides a fast and easy tool for detection of chromosomal abnormalities in hPSC lines. The analysis can be performed from low amounts of DNA isolated from whole cell pools with simple data analysis interface. The method enables routine screening of stem cell lines in a cost-efficient high-throughput manner. PMID:22877823

  19. Human neural progenitor cells decrease photoreceptor degeneration, normalize opsin distribution and support synapse structure in cultured porcine retina.

    PubMed

    Mollick, Tanzina; Mohlin, Camilla; Johansson, Kjell

    2016-09-01

    Retinal neurodegenerative disorders like retinitis pigmentosa, age-related macular degeneration, diabetic retinopathy and retinal detachment decrease retinal functionality leading to visual impairment. The pathological events are characterized by photoreceptor degeneration, synaptic disassembly, remodeling of postsynaptic neurons and activation of glial cells. Despite intense research, no effective treatment has been found for these disorders. The current study explores the potential of human neural progenitor cell (hNPC) derived factors to slow the degenerative processes in adult porcine retinal explants. Retinas were cultured for 3 days with or without hNPCs as a feeder layer and investigated by terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL), immunohistochemical, western blot and quantitative real time-polymerase chain reaction (qRT-PCR) techniques. TUNEL showed that hNPCs had the capacity to limit photoreceptor cell death. Among cone photoreceptors, hNPC coculture resulted in better maintenance of cone outer segments and reduced opsin mislocalization. Additionally, maintained synaptic structural integrity and preservation of second order calbindin positive horizontal cells was also observed. However, Müller cell gliosis only seemed to be alleviated in terms of reduced Müller cell density. Our observations indicate that at 3 days of coculture, hNPC derived factors had the capacity to protect photoreceptors, maintain synaptic integrity and support horizontal cell survival. Human neural progenitor cell applied treatment modalities may be an effective strategy to help maintain retinal functionality in neurodegenerative pathologies. Whether hNPCs can independently hinder Müller cell gliosis by utilizing higher concentrations or by combination with other pharmacological agents still needs to be determined. Copyright © 2016 Elsevier B.V. All rights reserved.

  20. Whole-Genome Array CGH Evaluation for Replacing Prenatal Karyotyping in Hong Kong

    PubMed Central

    Kan, Anita S. Y.; Lau, Elizabeth T.; Tang, W. F.; Chan, Sario S. Y.; Ding, Simon C. K.; Chan, Kelvin Y. K.; Lee, C. P.; Hui, Pui Wah; Chung, Brian H. Y.; Leung, K. Y.; Ma, Teresa; Leung, Wing C.; Tang, Mary H. Y.

    2014-01-01

    Objective To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. Methods Array CGH was performed on 220 samples recruited prospectively as the first-tier test study. In addition 150 prenatal samples with abnormal fetal ultrasound findings found to have normal karyotypes were analyzed as a ‘further-test’ study using NimbleGen CGX-135K oligonucleotide arrays. Results Array CGH findings were concordant with conventional cytogenetic results with the exception of one case of triploidy. It was found in the first-tier test study that aCGH detected 20% (44/220) clinically significant copy number variants (CNV), of which 21 were common aneuploidies and 23 had other chromosomal imbalances. There were 3.2% (7/220) samples with CNVs detected by aCGH but not by conventional cytogenetics. In the ‘further-test’ study, the additional diagnostic yield of detecting chromosome imbalance was 6% (9/150). The overall detection for CNVs of unclear clinical significance was 2.7% (10/370) with 0.9% found to be de novo. Eleven loci of common CNVs were found in the local population. Conclusion Whole-genome aCGH offered a higher resolution diagnostic capacity than conventional karyotyping for prenatal diagnosis either as a first-tier test or as a ‘further-test’ for pregnancies with fetal ultrasound anomalies. We propose replacing conventional cytogenetics with aCGH for all pregnancies undergoing invasive diagnostic procedures after excluding common aneuploidies and triploidies by quantitative fluorescent PCR. Conventional cytogenetics can be reserved for visualization of clinically significant CNVs. PMID:24505343

  1. Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong.

    PubMed

    Kan, Anita S Y; Lau, Elizabeth T; Tang, W F; Chan, Sario S Y; Ding, Simon C K; Chan, Kelvin Y K; Lee, C P; Hui, Pui Wah; Chung, Brian H Y; Leung, K Y; Ma, Teresa; Leung, Wing C; Tang, Mary H Y

    2014-01-01

    To evaluate the effectiveness of whole-genome array comparative genomic hybridization (aCGH) in prenatal diagnosis in Hong Kong. Array CGH was performed on 220 samples recruited prospectively as the first-tier test study. In addition 150 prenatal samples with abnormal fetal ultrasound findings found to have normal karyotypes were analyzed as a 'further-test' study using NimbleGen CGX-135K oligonucleotide arrays. Array CGH findings were concordant with conventional cytogenetic results with the exception of one case of triploidy. It was found in the first-tier test study that aCGH detected 20% (44/220) clinically significant copy number variants (CNV), of which 21 were common aneuploidies and 23 had other chromosomal imbalances. There were 3.2% (7/220) samples with CNVs detected by aCGH but not by conventional cytogenetics. In the 'further-test' study, the additional diagnostic yield of detecting chromosome imbalance was 6% (9/150). The overall detection for CNVs of unclear clinical significance was 2.7% (10/370) with 0.9% found to be de novo. Eleven loci of common CNVs were found in the local population. Whole-genome aCGH offered a higher resolution diagnostic capacity than conventional karyotyping for prenatal diagnosis either as a first-tier test or as a 'further-test' for pregnancies with fetal ultrasound anomalies. We propose replacing conventional cytogenetics with aCGH for all pregnancies undergoing invasive diagnostic procedures after excluding common aneuploidies and triploidies by quantitative fluorescent PCR. Conventional cytogenetics can be reserved for visualization of clinically significant CNVs.

  2. [Spectral karyotyping of seven prenatally detected marker chromosomes and complex chromosome aberrations].

    PubMed

    Song, Hua-lei; Chen, Bao-jiang; Fang, Qun; Xie, Ying-jun; Lin, Shao-bin; Wu, Jian-zhu

    2012-08-01

    To perform spectral karyotyping (SKY), fluorescence in situ hybridization (FISH) and conventional karyotyping on prenatally detected marker chromosomes and complex chromosomal aberrations. Five marker chromosomes and 2 complex chromosome aberrations diagnosed by G banding were collected. SKY was performed to verify the composition of marker chromosomes. FISH was used to confirm the diagnosis when necessary. In certain cases, C or N banding technique was employed to verify the composition of chromosomes. Results of ultrasonography and pregnancy outcome were reviewed. Among the 5 marker chromosomes, 2 were large and 3 were medium in size, 4 were de novo and one was inherited from the father. By SKY analysis, 2 marker chromosomes have originated from non-acrocentric chromosomes (4 and 9), whilst the other two have originated from acrocentric chromosomes (21 and 22). The remainder was derived from X chromosome. The SKY results were confirmed by FISH in 3 cases. Four cases have chosen to terminate the pregnancy after genetic counseling. A fetus with inherited paternal marker chromosome was delivered at term, and showed normal development during the first year of life. As for the other 2 cases with complex chromosome aberrations, by SKY examination, one had duplication in chromosome 8 and the other had chromosome rearrangements derived from translocation between chromosomes 2 and 6. In the latter case the fetus was delivered at term but showed developmental retardation at 6 months. SKY in combination with FISH can facilitate identification of the origins of marker chromosomes as well as complex chromosomal aberrations. With combined information from ultrasonography, SKY and FISH, effective counseling may be offered to the patients.

  3. Karyotype alteration generates the neoplastic phenotypes of SV40-infected human and rodent cells.

    PubMed

    Bloomfield, Mathew; Duesberg, Peter

    2015-01-01

    Despite over 50 years of research, it remains unclear how the DNA tumor viruses SV40 and Polyoma cause cancers. Prevailing theories hold that virus-coded Tumor (T)-antigens cause cancer by inactivating cellular tumor suppressor genes. But these theories don't explain four characteristics of viral carcinogenesis: (1) less than one in 10,000 infected cells become cancer cells, (2) cancers have complex individual phenotypes and transcriptomes, (3) recurrent tumors without viral DNA and proteins, (4) preneoplastic aneuploidies and immortal neoplastic clones with individual karyotypes. As an alternative theory we propose that viral carcinogenesis is a form of speciation, initiated by virus-induced aneuploidy. Since aneuploidy destabilizes the karyotype by unbalancing thousands of genes it catalyzes chain reactions of karyotypic and transcriptomic evolutions. Eventually rare karyotypes evolve that encode cancer-specific autonomy of growth. The low probability of forming new autonomous cancer-species by random karyotypic and transcriptomic variations predicts individual and clonal cancers. Although cancer karyotypes are congenitally aneuploid and thus variable, they are stabilized or immortalized by selections for variants with cancer-specific autonomy. Owing to these inherent variations cancer karyotypes are heterogeneous within clonal margins. To test this theory we analyzed karyotypes and phenotypes of SV40-infected human, rat and mouse cells developing into neoplastic clones. In all three systems we found (1) preneoplastic aneuploidies, (2) neoplastic clones with individual clonal but flexible karyotypes and phenotypes, which arose from less than one in 10,000 infected cells, survived over 200 generations, but were either T-antigen positive or negative, (3) spontaneous and drug-induced variations of neoplastic phenotypes correlating 1-to-1 with karyotypic variations. Since all 14 virus-induced neoplastic clones tested contained individual clonal karyotypes and

  4. Exploiting repetitive sequences and BAC clones in Festuca pratensis karyotyping.

    PubMed

    Majka, Joanna; Książczyk, Tomasz; Kiełbowicz-Matuk, Agnieszka; Kopecký, David; Kosmala, Arkadiusz

    2017-01-01

    The Festuca genus is thought to be the most numerous genus of the Poaceae family. One of the most agronomically important forage grasses, Festuca pratensis Huds. is treated as a model plant to study the molecular mechanisms associated with tolerance to winter stresses, including frost. However, the precise mapping of the genes governing stress tolerance in this species is difficult as its karyotype remains unrecognized. Only two F. pratensis chromosomes with 35S and 5S rDNA sequences can be easily identified, but its remaining chromosomes have not been distinguished to date. Here, two libraries derived from F. pratensis nuclear DNA with various contents of repetitive DNA sequences were used as sources of molecular probes for fluorescent in situ hybridisation (FISH), a BAC library and a library representing sequences most frequently present in the F. pratensis genome. Using FISH, six groups of DNA sequences were revealed in chromosomes on the basis of their signal position, including dispersed-like sequences, chromosome painting-like sequences, centromeric-like sequences, knob-like sequences, a group without hybridization signals, and single locus-like sequences. The last group was exploited to develop cytogenetic maps of diploid and tetraploid F. pratensis, which are presented here for the first time and provide a remarkable progress in karyotype characterization.

  5. Geometric correction of deformed chromosomes for automatic Karyotyping.

    PubMed

    Khan, Shadab; DSouza, Alisha; Sanches, João; Ventura, Rodrigo

    2012-01-01

    Automatic Karyotyping is the process of classifying chromosomes from an unordered karyogram into their respective classes to create an ordered karyogram. Automatic karyotyping algorithms typically perform geometrical correction of deformed chromosomes for feature extraction; these features are used by classifier algorithms for classifying the chromosomes. Karyograms of bone marrow cells are known to have poor image quality. An example of such karyograms is the Lisbon-K(1) (LK(1)) dataset that is used in our work. Thus, to correct the geometrical deformation of chromosomes from LK(1), a robust method to obtain the medial axis of the chromosome was necessary. To address this problem, we developed an algorithm that uses the seed points to make a primary prediction. Subsequently, the algorithm computes the distance of boundary from the predicted point, and the gradients at algorithm-specified points on the boundary to compute two auxiliary predictions. Primary prediction is then corrected using auxiliary predictions, and a final prediction is obtained to be included in the seed region. A medial axis is obtained this way, which is further used for geometrical correction of the chromosomes. This algorithm was found capable of correcting geometrical deformations in even highly distorted chromosomes with forked ends.

  6. An improved method for karyotype analyses of marine algae

    NASA Astrophysics Data System (ADS)

    Wang, Juan; Dai, Jixun

    2008-05-01

    Modified carbol fuchsin staining method was successfully introduced into the karyotype analyses of marine algae, including Porphyra, Undaria pinnatifida and Laminaria japonica. Haploid chromosomes were numbered clearly in the vegetative, spermatangial and conchosporangial cells of P. haitanensis and P. yezoensis. Diploid chromosomes were observed and numbered in immature conchosporangial cells of P. haitanensis and P. yezoensis. Pit-connections of Porphyra were also clearly demonstrated. Prophase chromosomes of conchocelis cells were also clearly stained with modified carbol fuchsin. One molar per liter hydrochloric hydrolysis at 60°C for 7-8 min is necessary for getting transparent cytoplasm for conchosporangial karyotype analysis of Porphyra. Staining effects of the three methods using iron alum acetocarmine, aceto-iron-haematoxylin-chloral hydrate and modified carbol fuchsin were compared on the vegetative, spermatangial and conchosporangial cells of Porphyra and the gametophytes of U. pinnatifida and L. japonica. Among the three methods, the modified carbol fuchsin method gave the best result of deep staining and good contrast between nucleus and cytoplasm.

  7. Diversity and Karyotypic Evolution in the Genus Neacomys (Rodentia, Sigmodontinae).

    PubMed

    da Silva, Willam O; Pieczarka, Julio C; Rossi, Rogério V; Schneider, Horacio; Sampaio, Iracilda; Miranda, Cleuton L; da Silva, Cláudia R; Cardoso, Elizandra M; Nagamachi, Cleusa Y

    2015-01-01

    Neacomys (Sigmodontinae) comprises 8 species mainly found in the Amazonian region. We describe 5 new karyotypes from Brazilian Amazonia: 2 cytotypes for N. paracou (2n = 56/FNa = 62-66), 1 for N. dubosti (2n = 64/FNa = 68), and 2 for Neacomys sp. (2n = 58/FNa = 64-70), with differences in the 18S rDNA. Telomeric probes did not show ITS. We provide a phylogeny using Cytb, and the analysis suggests that 2n = 56 with a high FNa is ancestral for the genus, as found in N. paracou, being retained by the ancestral forms of the other species, with an increase in 2n occurring independently in N. spinosus and N. dubosti. Alternatively, an increase in 2n may have occurred in the ancestral taxon of the other species, followed by independent 2n-reduction events in Neacomys sp. and in the ancestral species of N. tenuipes, N. guianae, N. musseri, and N. minutus. Finally, a drastic reduction event in the diploid number occurred in the ancestral species of N. musseri and N. minutus which exhibit the lowest 2n of the genus. The karyotypic variations found in both intra- and interspecific samples, associated with the molecular phylogeny, suggest a chromosomal evolution with amplification/deletion of constitutive heterochromatin and rearrangements including fusions, fissions, and pericentric inversions.

  8. Higher Brain Perfusion May Not Support Memory Functions in Cognitively Normal Carriers of the ApoE ε4 Allele Compared to Non-Carriers

    PubMed Central

    Zlatar, Zvinka Z.; Bischoff-Grethe, Amanda; Hays, Chelsea C.; Liu, Thomas T.; Meloy, M. J.; Rissman, Robert A.; Bondi, Mark W.; Wierenga, Christina E.

    2016-01-01

    Age-related changes in cerebral blood flow (CBF), which carries necessary nutrients to the brain, are associated with increased risk for mild cognitive impairment (MCI) and Alzheimer’s disease (AD). Whether the association between CBF and cognition is moderated by apolipoprotein E (ApoE) ε4 genotype, a known risk factor for AD, remains understudied, with most research focusing on exploring brain regions in which there are diagnostic group differences in CBF (i.e., cognitively normal vs. MCI vs. AD). This study measured resting CBF via arterial spin labeling (ASL) magnetic resonance imaging (MRI) and verbal memory functions using a composite score in 59 older adults with normal cognition (38 ε3; 21 ε4). Linear mixed effect models were employed to investigate if the voxel-wise relationship between verbal memory performance and resting CBF was modified by ApoE genotype. Results indicated that carriers of the ApoE ε4 allele display negative associations between verbal memory functions and CBF in medial frontal cortex, medial and lateral temporal cortex, parietal regions, insula, and the basal ganglia. Contrarily, ε3 carriers exhibited positive associations between verbal memory functions and CBF in medial frontal cortex, thalamus, insula, and basal ganglia. Findings suggest that higher CBF was associated with worse verbal memory functions in cognitively normal ε4 carriers, perhaps reflecting dysregulation within the neurovascular unit, which is no longer supportive of cognition. Results are discussed within the context of the vascular theory of AD risk. PMID:27445794

  9. Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.

    PubMed

    Demaerel, Wolfram; Hosseinzadeh, Majid; Nouri, Nayereh; Sedghi, Maryam; Dimitriadou, Eftychia; Salehi, Mansoor; Abdali, Hossein; Memarzadeh, Mehrdad; Zamani, Mahdi; Vermeesch, Joris R

    2016-01-01

    The 22q11.2 locus is known to harbor a high risk for structural variation caused by non-allelic homologous recombination, resulting in deletions and duplications. Here, we describe the first family with one sibling carrying the 22q11 deletion and the other carrying the reciprocal duplication. FISH and SNP array analysis of the parents show a maternal origin for both deletion and duplication, without indications of balanced deletions/duplications or mosaicism. We hypothesize that germline mosaicism in the mother underlies the deletion and duplication, which would implicate a high recurrence risk for her offspring. © 2016 S. Karger AG, Basel.

  10. Epigenetic Regulation of Normal and Transformed Breast Epithelial Cell Phenotype

    DTIC Science & Technology

    2009-06-01

    of nine cell lines corresponding to two different normal breast cell types isolated from three different individuals ( BPE 2, HME2, BPE3, HME3, BPE4...normal breast cell subtypes a ( BPE and HME) and their transformed derivatives (BPLER and HMLER) The results in Figure 1 indicate that the...process. 5 Table1 Karyotype analysis of two different normal breast cell subtypes a ( BPE and HME) and their

  11. Evidence for meiotic drive as an explanation for karyotype changes in fishes.

    PubMed

    Molina, Wagner Franco; Martinez, Pablo A; Bertollo, Luiz Antônio C; Bidau, Claudio Juan

    2014-06-01

    The process of preferential chromosome segregation during meiosis has been suggested to be responsible for the predominance of certain chromosome types in the karyotypes of mammals, birds and insects. We developed an extensive analysis of the fixation of mono- or bibrachial chromosomes in the karyotypes of the large Actinopterygii fish group, a key link in the evolution of terrestrial vertebrates, in order to investigate the generality of meiotic drive in determining karyotypic macrotrends. Unlike mammals, fishes have markedly undergone several types of preferential chromosomal rearrangements throughout evolution. Data from the analyzed orders indicate a prevalence of karyotypes with few (<33%) or many (>66%) acrocentric chromosomes and a low number of karyotypes with balanced numbers of mono- and bi-brachial elements. Parallel trends towards a higher number of karyotypes with prevalence of monobrachial chromosomes occurred in phylogenetically close orders (e.g. Perciformes and Tetraodontiformes, and in the order Mugiliformes) and in clades with prevalence of bibrachial elements (e.g. Characiformes, Gymnotiformes, Siluriformes, and Cypriniformes). Some orders where fewer species were available for study, such as Atheriniformes and Anguilliformes, showed karyotype assemblages where both trends were present. Our results strongly suggest a primary role of meiotic drive in karyotypic evolution as indicated by the accumulation of monobrachial chromosomes in Perciformes and Cypriniformes, or bibrachial chromosomes in Siluriformes and Characiformes. Further examinations of the interaction between life history traits, environmental characteristics, and the fixation of chromosomal rearrangements would be exceedingly valuable.

  12. Variation in genome size and karyotype among closely related parasitoids of aphids

    USDA-ARS?s Scientific Manuscript database

    Genome sizes and karyotypes can provide crucial insights into important characteristics of genomes, as well as providing data for phylogenetic inferences. We measured genome sizes and determined the karyotypes of nine species of aphid parasitoids in the genus Aphelinus. Genome sizes estimated from...

  13. Use of Doppler echocardiography to support the decision to discontinue secondary prophylaxis for patients with rheumatic fever and normal cardiac auscultation.

    PubMed

    da Rocha Araújo, Fátima Derlene; de Andrade Goulart, Eugênio Marcos; Meira, Zilda Maria Alves

    2013-06-01

    Secondary prophylaxis remains the safest way to prevent or minimize heart valve damage in patients with rheumatic fever. However, criteria to determine the duration of prophylaxis have not been well established. This study aimed to evaluate the clinical and Doppler echocardiographic profile of patients with rheumatic fever and a normal clinical examination at least 5 years after the first episode and to discuss the contribution of Doppler echocardiography in supporting the decision to discontinue secondary prophylaxis. An observational longitudinal study analyzing 183 patients with rheumatic fever and a normal clinical examination 5 years or more after the initial attack was conducted. The patients underwent Doppler echocardiography to study the severity of mitral or aortic valvular disease. Of the 183 patients, 77 (42 %) had clinical carditis. Subclinical chronic heart disease occurred for 79 % of the patients with previous clinical carditis and for 25 % of the patients without clinical carditis. Of the 35 patients with previous clinical carditis who were in the period of discontinued prophylaxis, residual valvular heart disease was observed in all, whereas of the 62 patients without clinical carditis, only 27 % showed residual valvular heart disease. Considering Doppler echocardiographic criteria, prophylaxis would be continued for 13 (34 %) of the patients with previous clinical carditis and for only 2 (3 %) of those without clinical carditis. Return of cardiac auscultation to normal is not always accompanied by return of Doppler echocardiographic findings to normal. Criteria regarding Doppler echocardiographic findings and valve morphology should be evaluated by the time secondary prophylaxis is discontinued. However, further studies are needed to demonstrate whether prolonged prophylaxis provides any benefit to patients with persistent echocardiographic findings.

  14. Karyotyping human and mouse cells using probes from single-sorted chromosomes and open source software.

    PubMed

    Potapova, Tamara A; Unruh, Jay R; Box, Andrew C; Bradford, William D; Seidel, Christopher W; Slaughter, Brian D; Sivagnanam, Shamilene; Wu, Yuping; Li, Rong

    2015-12-01

    Multispectral karyotyping analyzes all chromosomes in a single cell by labeling them with chromosome-specific probes conjugated to unique combinations of fluorophores. Currently available multispectral karyotyping systems require the purchase of specialized equipment and reagents. However, conventional laser scanning confocal microscopes that are capable of separating multiple overlapping emission spectra through spectral imaging and linear unmixing can be utilized for classifying chromosomes painted with multicolor probes. Here, we generated multicolor chromosome paints from single-sorted human and mouse chromosomes and developed the Karyotype Identification via Spectral Separation (KISS) analysis package, a set of freely available open source ImageJ tools for spectral unmixing and karyotyping. Chromosome spreads painted with our multispectral probe sets can be imaged on widely available spectral laser scanning confocal microscopes and analyzed using our ImageJ tools. Together, our probes and software enable academic labs with access to a laser-scanning spectral microscope to perform multicolor karyotyping in a cost-effective manner.

  15. [Comparison of chromosome karyotype between myelodysplastic syndrome and acute leukemia patients confirmed at the same period].

    PubMed

    Jiang, Ming; Wen, Bing-Zhao; Li, Ling; Chen, Shuang; Cheng, Hong; Hao, Jian-Ping; Chen, Rong; Wang, Lei; Zhao, Fang

    2014-04-01

    This study was purposed to compare and analyze the relationship between the abnormality of chromosome karyotypes and diagnosis, prognosis of MDS and AML patients, as well as to explore the characteristics of chromosome prognostic stratification in MDS and AML patients of different ages. The cytogenetic karyotype analysis was performed in 134 cases of MDS and 123 cases of AML by using bone marrow short-term culture and R-banding technique. The results indicated that the detected rates of chromosome abnormal karyotypes in MDS and AML patients were 41% and 61% respectively. The abnormal karyotype analysis of MDS and AML group showed that the abnormal karyotype in MDS group displayed number abnormality as the dominate (mainly the +8), while the abnormal karyotype in AML group displayed structure abnormality as the dominant [mainly, t(15;17) and t(8;21)]. The detected abnormal karyotype are mainly for the +8 which has ambiguous correlation with FAB subtype; the detection rates of complex karyotype abnormalities, favourable prognosis karyotype as well as poor prognosis karyotype in the MDS group obviously higher than that of AML group. Among patients with MDS transformed into AML, 12 cases had chromosome abnormal karyotype. There were 3 cases of chromosome abnormal karyotype in AML group which were transformed by MDS. The analysis of age stratification between two groups showed that the detected rate of abnormal karyotype was enhanced with the increase of age in MDS group, and detected rate in ≥ 60 years old group was obviously higher than that in patients with ≤ 30 age group.The detected rate of complex karyotype abnormalities in three age groups of MDS did not show statistical difference; the detected rate of abnormal karyotype in AML group decreased with the increase of age, the detected rate in ≤ 30 years old group was obviously higher than that in ≥ 60 age group,while the detection rate of complex karyotype abnormalities showed that the detected rate in

  16. A new sympatric region for distinct karyotypic forms of Hoplias malabaricus (Pisces, Erythrinidae).

    PubMed

    Born, G G; Bertollo, L A C

    2006-02-01

    Specimens of Hoplias malabaricus from Lagoa Carioca, an isolated lake of the Rio Doce State Park (state of Minas Gerais, Brazil), were cytogenetically studied. The diploid number was found to be constant, i.e., 2n = 42 chromosomes, although two karyotypic forms were found: karyotype A, characterized by 22M + 20SM chromosomes, observed only in a male specimen, and karyotype B, characterized by 24M + 16SM + 2ST and 24M + 17SM + 1ST chromosomes in female and male specimens, respectively. This sex difference found in karyotype B is related to an XX/XY sex chromosome system. Another female specimen of H. malabaricus, also carrying karyotype A, had previously been found in the same lake. The available data indicate that two sympatric cytotypes of H. malabaricus exist in the Lagoa Carioca, with cytotype A occurring at a lower frequency and differing from cytotype B by undifferentiated sex chromosomes.

  17. Follow-up 20 years later of 34 Klinefelter males with karyotype 47,XXY and 16 hypogonadal males with karyotype 46,XY.

    PubMed

    Nielsen, J; Pelsen, B

    1987-10-01

    A 20-year follow-up study of 50 hypogonadal males has been made. Of these 34 had Klinefelter's syndrome with the karyotype 47,XXY and 16 had the karyotype 46,XY. These males have been examined at mean ages of 27 and 37 and in the present study at a mean age of 47. At the first examination the following conditions were found in the Klinefelter males to a significantly higher degree than in the hypogonadal males with 46,XY: immaturity, below average school performance, few or no friends, previous mental illness, little energy and initiative, few or no spare time interests, occupation as an unskilled labourer. Psychological testing showed a full scale IQ of 103 in the Klinefelter males and 115 in the hypogonadal males. The follow-up studies have shown that in spite of these findings the Klinefelter males have managed far better than could have been expected at the time of the first investigation. The improvement in a number of conditions such as mental health, working capacity, social adjustment, relations with other people, and activity level was considerable between the ages of 27 and 37. The present examination shows a further improvement at the age of 47 with the only significant difference between the Klinefelter males and the hypogonadal males with 46,XY being a higher frequency of single Klinefelter males. The present examination also showed that there was no significant difference between the two groups in occupation, working capacity, social adjustment, mental and physical disorders or criminality. The results of the examination at the mean age of 27 would probably have been considerably more favourable for the Klinefelter males if diagnosis had been made in childhood, and information, counselling, support and hormone treatment had been given from an early age. The fact that the great majority of the Klinefelter males have managed quite well in spite of this and that no remarkable differences were found between them and a control group is of great importance

  18. Improved assay performance of single nucleotide polymorphism array over conventional karyotyping in analyzing products of conception.

    PubMed

    Lin, Shao-Bin; Xie, Ying-Jun; Chen, Zheng; Zhou, Yi; Wu, Jian-Zhu; Zhang, Zhi-Qiang; Shi, Shan-Shan; Chen, Bao-Jiang; Fang, Qun

    2015-07-01

    Conventional karyotyping has been a routine method to identify chromosome abnormalities in products of conception. However, this process is being transformed by single nucleotide polymorphism (SNP) array, which has advantages over karyotyping, including higher resolution and dispensing with cell culture. Therefore, the purpose of this study was to evaluate the advantage of high-resolution SNP array in identifying genetic aberrations in products of conception. We consecutively collected 155 products of conception specimens, including 139 from first-trimester miscarriage and 16 from second-trimester miscarriage. SNP array was performed on these samples in parallel with G-banded karyotyping. The test success rate was 98.1% (152/155) using SNP array, which was higher than that using karyotyping (133/155, 85.8%). It yielded a 63.8% (97/152) abnormality rate, and the frequency of various chromosome abnormalities was in agreement with other previous studies. The results between array and karyotyping demonstrated a 94.0% (125/133) concordance. SNP array obtained additional aberrations in 3.8% (5/133) of those cases unidentified by karyotyping, which included three cases with whole-genome uniparental disomy, one with pathogenic copy number variation, and one with del(4)(q35.1q35.2) and dup(12)(q24.31q24.33). However, chromosome translocations presented in two cases and tetraploidy presented in one case were detected by karyotyping instead of array. Additionally, two out of three cases with mosaic trisomy were revealed by array but recognized as pure trisomy by karyotyping. This study demonstrated that SNP array had certain advantages over G-banded karyotyping, including a higher success rate, additional detection of copy number variations and uniparental disomy, and improved sensitivity to mosaicism. Therefore, it would be an alternative method to karyotyping in clinical genetic practice. Copyright © 2015. Published by Elsevier Taiwan.

  19. Identification of Proteins Related to Epigenetic Regulation in the Malignant Transformation of Aberrant Karyotypic Human Embryonic Stem Cells by Quantitative Proteomics

    PubMed Central

    Sun, Yi; Yang, Yixuan; Zeng, Sicong; Tan, Yueqiu; Lu, Guangxiu; Lin, Ge

    2014-01-01

    Previous reports have demonstrated that human embryonic stem cells (hESCs) tend to develop genomic alterations and progress to a malignant state during long-term in vitro culture. This raises concerns of the clinical safety in using cultured hESCs. However, transformed hESCs might serve as an excellent model to determine the process of embryonic stem cell transition. In this study, ITRAQ-based tandem mass spectrometry was used to quantify normal and aberrant karyotypic hESCs proteins from simple to more complex karyotypic abnormalities. We identified and quantified 2583 proteins, and found that the expression levels of 316 proteins that represented at least 23 functional molecular groups were significantly different in both normal and abnormal hESCs. Dysregulated protein expression in epigenetic regulation was further verified in six pairs of hESC lines in early and late passage. In summary, this study is the first large-scale quantitative proteomic analysis of the malignant transformation of aberrant karyotypic hESCs. The data generated should serve as a useful reference of stem cell-derived tumor progression. Increased expression of both HDAC2 and CTNNB1 are detected as early as the pre-neoplastic stage, and might serve as prognostic markers in the malignant transformation of hESCs. PMID:24465727

  20. SNP array–based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes

    PubMed Central

    Afable, Manuel G.; Wlodarski, Marcin; Makishima, Hideki; Shaik, Mohammed; Sekeres, Mikkael A.; Tiu, Ramon V.; Kalaycio, Matt; O'Keefe, Christine L.

    2011-01-01

    In aplastic anemia (AA), contraction of the stem cell pool may result in oligoclonality, while in myelodysplastic syndromes (MDS) a single hematopoietic clone often characterized by chromosomal aberrations expands and outcompetes normal stem cells. We analyzed patients with AA (N = 93) and hypocellular MDS (hMDS, N = 24) using single nucleotide polymorphism arrays (SNP-A) complementing routine cytogenetics. We hypothesized that clinically important cryptic clonal aberrations may exist in some patients with BM failure. Combined metaphase and SNP-A karyotyping improved detection of chromosomal lesions: 19% and 54% of AA and hMDS cases harbored clonal abnormalities including copy-neutral loss of heterozygosity (UPD, 7%). Remarkably, lesions involving the HLA locus suggestive of clonal immune escape were found in 3 of 93 patients with AA. In hMDS, additional clonal lesions were detected in 5 (36%) of 14 patients with normal/noninformative routine cytogenetics. In a subset of AA patients studied at presentation, persistent chromosomal genomic lesions were found in 10 of 33, suggesting that the initial diagnosis may have been hMDS. Similarly, using SNP-A, earlier clonal evolution was found in 4 of 7 AA patients followed serially. In sum, our results indicate that SNP-A identify cryptic clonal genomic aberrations in AA and hMDS leading to improved distinction of these disease entities. PMID:21527527

  1. Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child.

    PubMed Central

    Dean, J; Cohen, G; Kemp, J; Robson, L; Tembe, V; Hasselaar, J; Webster, B; Lammi, A; Smith, A

    1997-01-01

    We present the clinical findings in a 2 1/2 year old girl with an unusual mosaic karyotype. Amniocentesis was performed at 35 weeks because of intrauterine growth retardation. The in situ cultures showed 47,XX,+15 in seven colonies, 69,XXX in four colonies, and in two colonies 46,XX was detected. Subcultures showed 69,XXX/47,XX,+15 with no normal cells. A small dysmorphic baby was born at term. Cytogenetic studies were performed on cord blood, amnion, and placental tissue immediately after birth and further studies on peripheral blood, bone marrow, muscle biopsy, and skin cultures at 1 1/2 years of age. FISH with two autosomal centromeric probes was performed on the peripheral blood sample. A normal cell line could not be seen in any postnatal tissue by either technique. The predominant cell line postnatally was 69,XXX. There were no cytogenetic polymorphisms and the parental origin of the different cell lines was not determined. Marked red cell macrocytosis of peripheral blood was noted on routine blood count. Bone marrow aspiration showed megaloblastic haemopoiesis without evidence of vitamin B12 or folate deficiency. At 2 1/2 years, the patient has significant developmental problems. Images PMID:9132499

  2. The origin of the extra Y chromosome in males with a 47,XYY karyotype.

    PubMed

    Robinson, D O; Jacobs, P A

    1999-11-01

    The presence of an extra Y chromosome in males is a relatively common occurrence, the 47,XYY karyotype being found in approximately 1 in 1000 male births. The error of disjunction must occur either during paternal meiosis II or as a post-zygotic mitotic error, both of which are rare events for other chromosomes. It is therefore of interest to determine when errors of Y chromosome disjunction occur. It is possible to distinguish between the different mechanisms of non-disjunction by analysing DNA polymorphisms at the distal tip of the Xp/Yp pseudoautosomal region in 47,XYY males, their parents and in some cases paternal grandparents. A cohort of 28 non-mosaic 47,XYY males was analysed. The results show that there are at least two mechanisms causing non-disjunction of the Y chromosome. In 16 of the 19 cases from which parents were available, the extra Y was generated by non-disjunction at meiosis II after a normal chiasmate meiosis I. Three cases were due to either a post-zygotic mitotic error or non-disjunction at meiosis II after a nullichiasmate meiosis I. Of the nine cases with no parental DNA available, at least four were due to meiosis II non-disjunction following a normal chiasmate meiosis I.

  3. Molecular Karyotype of the White Rot Fungus Pleurotus ostreatus

    PubMed Central

    Larraya, Luis M.; Pérez, Gumer; Peñas, María M.; Baars, Johan J. P.; Mikosch, Thomas S. P.; Pisabarro, Antonio G.; Ramírez, Lucía

    1999-01-01

    The white rot fungus Pleurotus ostreatus is an edible basidiomycete with increasing agricultural and biotechnological importance. Genetic manipulation and breeding of this organism are restricted because of the lack of knowledge about its genomic structure. In this study, we analyzed the genomic constitution of P. ostreatus by using pulsed-field gel electrophoresis optimized for the separation of its chromosomes. We have determined that it contains 11 pairs of chromosomes with sizes ranging from 1.4 to 4.7 Mbp. In addition to chromosome separation, the use of single-copy DNA probes allowed us to resolve the ambiguities caused by chromosome comigration. When the two nuclei present in the dikaryon were separated by protoplasting, analysis of their karyotypes revealed length polymorphisms affecting various chromosomes. This is, to our knowledge, the clearest chromosome separation available for this species. PMID:10427028

  4. Hemiplasy and homoplasy in the karyotypic phylogenies of mammals

    PubMed Central

    Robinson, Terence J.; Ruiz-Herrera, Aurora; Avise, John C.

    2008-01-01

    Phylogenetic reconstructions are often plagued by difficulties in distinguishing phylogenetic signal (due to shared ancestry) from phylogenetic noise or homoplasy (due to character-state convergences or reversals). We use a new interpretive hypothesis, termed hemiplasy, to show how random lineage sorting might account for specific instances of seeming “phylogenetic discordance” among different chromosomal traits, or between karyotypic features and probable species phylogenies. We posit that hemiplasy is generally less likely for underdominant chromosomal polymorphisms (i.e., those with heterozygous disadvantage) than for neutral polymorphisms or especially for overdominant rearrangements (which should tend to be longer-lived), and we illustrate this concept by using examples from chiropterans and afrotherians. Chromosomal states are especially powerful in phylogenetic reconstructions because they offer strong signatures of common ancestry, but their evolutionary interpretations remain fully subject to the principles of cladistics and the potential complications of hemiplasy. PMID:18787123

  5. Genomic and karyotypic variation in Drosophila parasitoids (Hymenoptera, Cynipoidea, Figitidae).

    PubMed

    Gokhman, Vladimir E; Johnston, J Spencer; Small, Chiyedza; Rajwani, Roma; Hanrahan, Shawn J; Govind, Shubha

    2011-01-01

    Drosophila melanogaster Meigen, 1830 has served as a model insect for over a century. Sequencing of the 11 additional Drosophila Fallen, 1823 species marks substantial progress in comparative genomics of this genus. By comparison, practically nothing is known about the genome size or genome sequences of parasitic wasps of Drosophila. Here, we present the first comparative analysis of genome size and karyotype structures of Drosophila parasitoids of the Leptopilina Förster, 1869 and Ganaspis Förster, 1869 species. The gametic genome size of Ganaspis xanthopoda (Ashmead, 1896) is larger than those of the three Leptopilina species studied. The genome sizes of all parasitic wasps studied here are also larger than those known for all Drosophila species. Surprisingly, genome sizes of these Drosophila parasitoids exceed the average value known for all previously studied Hymenoptera. The haploid chromosome number of both Leptopilina heterotoma (Thomson, 1862) and Leptopilina victoriae Nordlander, 1980 is ten. A chromosomal fusion appears to have produced a distinct karyotype for Leptopilina boulardi (Barbotin, Carton et Keiner-Pillault, 1979)(n = 9), whose genome size is smaller than that of wasps of the Leptopilina heterotoma clade. Like Leptopilina boulardi, the haploid chromosome number for Ganaspis xanthopoda is also nine. Our studies reveal a positive, but non linear, correlation between the genome size and total chromosome length in Drosophila parasitoids. These Drosophila parasitoids differ widely in their host range, and utilize different infection strategies to overcome host defense. Their comparative genomics, in relation to their exceptionally well-characterized hosts, will prove to be valuable for understanding the molecular basis of the host-parasite arms race and how such mechanisms shape the genetic structures of insectcommunities.

  6. Genomic and karyotypic variation in Drosophila parasitoids (Hymenoptera, Cynipoidea, Figitidae)

    PubMed Central

    Gokhman, Vladimir E.; Johnston, J. Spencer; Small, Chiyedza; Rajwani, Roma; Hanrahan, Shawn J.; Govind, Shubha

    2011-01-01

    Abstract Drosophila melanogaster Meigen, 1830 has served as a model insect for over a century. Sequencing of the 11 additional Drosophila Fallen, 1823 species marks substantial progress in comparative genomics of this genus. By comparison, practically nothing is known about the genome size or genome sequences of parasitic wasps of Drosophila. Here, we present the first comparative analysis of genome size and karyotype structures of Drosophila parasitoids of the Leptopilina Förster, 1869 and Ganaspis Förster, 1869 species. The gametic genome size of Ganaspis xanthopoda (Ashmead, 1896) is larger than those of the three Leptopilina species studied. The genome sizes of all parasitic wasps studied here are also larger than those known for all Drosophila species. Surprisingly, genome sizes of these Drosophila parasitoids exceed the average value known for all previously studied Hymenoptera. The haploid chromosome number of both Leptopilina heterotoma (Thomson, 1862) and Leptopilina victoriae Nordlander, 1980 is ten. A chromosomal fusion appears to have produced a distinct karyotype for Leptopilina boulardi (Barbotin, Carton et Keiner-Pillault, 1979)(n = 9), whose genome size is smaller than that of wasps of the Leptopilina heterotoma clade. Like Leptopilina boulardi, the haploid chromosome number for Ganaspis xanthopoda is also nine. Our studies reveal a positive, but non linear, correlation between the genome size and total chromosome length in Drosophila parasitoids. These Drosophila parasitoids differ widely in their host range, and utilize different infection strategies to overcome host defense. Their comparative genomics, in relation to their exceptionally well-characterized hosts, will prove to be valuable for understanding the molecular basis of the host-parasite arms race and how such mechanisms shape the genetic structures of insectcommunities. PMID:24260630

  7. Boosted Regression Trees Outperforms Support Vector Machines in Predicting (Regional) Yields of Winter Wheat from Single and Cumulated Dekadal Spot-VGT Derived Normalized Difference Vegetation Indices

    NASA Astrophysics Data System (ADS)

    Stas, Michiel; Dong, Qinghan; Heremans, Stien; Zhang, Beier; Van Orshoven, Jos

    2016-08-01

    This paper compares two machine learning techniques to predict regional winter wheat yields. The models, based on Boosted Regression Trees (BRT) and Support Vector Machines (SVM), are constructed of Normalized Difference Vegetation Indices (NDVI) derived from low resolution SPOT VEGETATION satellite imagery. Three types of NDVI-related predictors were used: Single NDVI, Incremental NDVI and Targeted NDVI. BRT and SVM were first used to select features with high relevance for predicting the yield. Although the exact selections differed between the prefectures, certain periods with high influence scores for multiple prefectures could be identified. The same period of high influence stretching from March to June was detected by both machine learning methods. After feature selection, BRT and SVM models were applied to the subset of selected features for actual yield forecasting. Whereas both machine learning methods returned very low prediction errors, BRT seems to slightly but consistently outperform SVM.

  8. Evidence supporting a role for dihydroorotate dehydrogenase, bioenergetics, and p53 in selective teriflunomide-induced apoptosis in transformed versus normal human keratinocytes.

    PubMed

    Hail, Numsen; Chen, Ping; Kepa, Jadwiga J; Bushman, Lane R

    2012-03-01

    We have demonstrated previously that the dihydroorotate dehydrogenase (DHODH) inhibitor teriflunomide (TFN) encourages apoptosis in transformed human keratinocytes. Here we sought to determine if this cytotoxic effect could be restricted to transformed keratinocytes relative to their normal human epidermal keratinocyte (NHEK) counterparts, and ascertain a potential mechanistic basis for the selectivity. The NHEK cells proliferated much slower than the premalignant HaCaT and malignant COLO 16 keratinocytes, and exogenous uridine added to the culture medium did not affect this growth. Similarly, DHODH expression and the bioenergetic characteristics of the normal cells were markedly dissimilar from those observed in the transformed cells indicating that de novo pyrimidine synthesis was involved with keratinocyte proliferation. Moreover, a short-term exposure to TFN caused a wild-type p53 response in the NHEK cells illustrating that pyrimidine metabolic stress could regulate this tumor suppressor protein in the normal cells. TFN-induced apoptosis occurred primarily in S phase HaCaT cells. This cell death was sensitive to uridine, an antioxidant, and a caspase inhibitor, and the suppression of Bcl-X(L) and the induction of Mn superoxide dismutase preceded it. These events suggested that mitochondrial/redox stress was involved with the cytotoxic effect of TFN. Conversely, a long-term exposure to TFN caused G(0)/G(1) arrest in the NHEK cells, which supported a cytoprotective role for p53 against TFN-induced apoptosis. Together, these results propose that TFN could be useful in the prevention or therapy of non-melanoma skin cancers and possibly other hyperproliferative keratinocytic diseases.

  9. The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.

    PubMed

    Al-Qattan, Sarah M; Wakil, Salma M; Anazi, Shamsa; Alazami, Anas M; Patel, Nisha; Shaheen, Ranad; Shamseldin, Hanan E; Hagos, Samya T; AlDossari, Haya M; Salih, Mustafa A; El Khashab, Heba Y; Kentab, Amal Y; AlNasser, Mohammed N; Bashiri, Fahad A; Kaya, Namik; Hashem, Mais O; Alkuraya, Fowzan S

    2015-09-01

    Molecular karyotyping has rapidly become the test of choice in patients with neurocognitive phenotypes, but studies of its clinical utility have largely been limited to outbred populations. In consanguineous populations, single-gene recessive causes of neurocognitive phenotypes are expected to account for a relatively high percentage of cases, thus diminishing the yield of molecular karyotyping. The aim of this study was to test the clinical yield of molecular karyotyping in the highly consanguineous population of Saudi Arabia. We have reviewed the data of 584 patients with neurocognitive phenotypes (mainly referred from pediatric neurology clinics), all evaluated by a single clinical geneticist. At least 21% of tested cases had chromosomal aberrations that are likely disease-causing. These changes include both known and novel deletion syndromes. The higher yield of molecular karyotyping in this study as compared with the commonly cited 11% can be explained by our ability to efficiently identify single-gene disorders, thus enriching the samples that underwent molecular karyotyping for de novo chromosomal aberrations. We show that we were able to identify a causal mutation in 37% of cases on a clinical basis with the help of autozygome analysis, thus bypassing the need for molecular karyotyping. Our study confirms the clinical utility of molecular karyotyping even in highly consanguineous populations.

  10. Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes in Diagnosing Mixed Gonadal Dysgenesis

    PubMed Central

    Takahashi, Ikuko; Miyamoto, Junko; Hasegawa, Yukihiro

    2006-01-01

    Mixed gonadal dysgenesis (MGD) is an abnormal sexual differentiation syndrome usually presenting with ambiguous genitalia. Karyotype analysis is one of the essential components in the diagnosis of MGD and is conventionally done with peripheral lymphocytes by the G-banding technique. It is speculated that this conventional karyotype analysis has limitations since there are often difference in gonadal tissue analysis. Here we present four cases of MGD, in which karyotype analysis were performed by peripheral lymphocytes fluorescence in situ hybridization (FISH), gonad fibroblasts FISH and gonad fibroblasts G-banding technique, in addition to the conventional peripheral lymphocytes G-banding technique. In Case 1, the percentage of the 45,X cell line in lymphocytes decreased after birth and detection of mosaicism could only be done by karyotype of gonads at 7 mo of age. In Case 2, FISH analysis with peripheral lymphocytes was more useful for detecting low frequency mosaicism. In all cases, phenotype of gonads and external genitalia were more consistent with karyotype of gonads than that of the peripheral lymphocytes G-banding technique. In conclusion, conventional G-banding karyotype analysis with peripheral lymphocytes has limitations in the diagnosis and evaluation of MGD. Karyotype analysis by FISH or by using gonads is useful for diagnosing MGD and understanding of the phenotype of gonadal tissue. PMID:24790330

  11. Genome downsizing and karyotype constancy in diploid and polyploid congeners: a model of genome size variation.

    PubMed

    Poggio, Lidia; Realini, María Florencia; Fourastié, María Florencia; García, Ana María; González, Graciela Esther

    2014-06-26

    Evolutionary chromosome change involves significant variation in DNA amount in diploids and genome downsizing in polyploids. Genome size and karyotype parameters of Hippeastrum species with different ploidy level were analysed. In Hippeastrum, polyploid species show less DNA content per basic genome than diploid species. The rate of variation is lower at higher ploidy levels. All the species have a basic number x = 11 and bimodal karyotypes. The basic karyotypes consist of four short metacentric chromosomes and seven large chromosomes (submetacentric and subtelocentric). The bimodal karyotype is preserved maintaining the relative proportions of members of the haploid chromosome set, even in the presence of genome downsizing. The constancy of the karyotype is maintained because changes in DNA amount are proportional to the length of the whole-chromosome complement and vary independently in the long and short sets of chromosomes. This karyotype constancy in taxa of Hippeastrum with different genome size and ploidy level indicates that the distribution of extra DNA within the complement is not at random and suggests the presence of mechanisms selecting for constancy, or against changes, in karyotype morphology.

  12. Genome downsizing and karyotype constancy in diploid and polyploid congeners: a model of genome size variation

    PubMed Central

    Poggio, Lidia; Realini, María Florencia; Fourastié, María Florencia; García, Ana María; González, Graciela Esther

    2014-01-01

    Evolutionary chromosome change involves significant variation in DNA amount in diploids and genome downsizing in polyploids. Genome size and karyotype parameters of Hippeastrum species with different ploidy level were analysed. In Hippeastrum, polyploid species show less DNA content per basic genome than diploid species. The rate of variation is lower at higher ploidy levels. All the species have a basic number x = 11 and bimodal karyotypes. The basic karyotypes consist of four short metacentric chromosomes and seven large chromosomes (submetacentric and subtelocentric). The bimodal karyotype is preserved maintaining the relative proportions of members of the haploid chromosome set, even in the presence of genome downsizing. The constancy of the karyotype is maintained because changes in DNA amount are proportional to the length of the whole-chromosome complement and vary independently in the long and short sets of chromosomes. This karyotype constancy in taxa of Hippeastrum with different genome size and ploidy level indicates that the distribution of extra DNA within the complement is not at random and suggests the presence of mechanisms selecting for constancy, or against changes, in karyotype morphology. PMID:24969503

  13. Karyotypic Variation within Clonal Lineages of the Rice Blast Fungus, Magnaporthe grisea

    PubMed Central

    Talbot, Nicholas J.; Salch, Yangkyo P.; Ma, Margery; Hamer, John E.

    1993-01-01

    We have analyzed the karyotype of the rice blast fungus, Magnaporthe grisea, by using pulsed-filed gel electrophoresis. We tested whether the electrophoretic karyotype of an isolate was related to its pathotype, as determined by infection assays, or its genetic lineage, as determined by DNA fingerprinting. Highly reproducible electrophoretic karyotypes were obtained for a collection of U.S. and Chinese isolates representing a diverse collection of pathotypes and genetic lineages. Chromosomes ranged in size from 3 to 10 Mb. Although chromosome number was largely invariant, chromosome length polymorphisms were frequent. Minichromosomes were also found, although their presence was not ubiquitous. They ranged in number from 1 to 3 and in size from 470 kb to 2.2 Mb. Karyotypes were sufficiently variable as to obscure the obvious relatedness of isolates on the basis of pathogenicity assays or genetic lineage analysis by DNA fingerprinting. We documented that the electrophoretic karyotype of an isolate can change after prolonged serial transfer in culture and that this change did not alter the isolate's pathotype. The mechanisms bringing about karyotype variability involve deletions, translocations, and more complex rearrangements. We conclude that karyotypic variability in the rice blast fungus is a reflection of the lack of sexuality in wild populations which leads to the maintenance of neutral genomic rearrangements in clones of the fungus. Images PMID:16348876

  14. Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype

    PubMed Central

    Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Hasegawa, Yukihiro; Morison, Ian M.

    2015-01-01

    Abstract Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype. A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization (FISH) for X and Y chromosomes and immunofluorescence for SRY along with testicular and ovarian lineage markers SOX9 and FOXL2, respectively, were performed on paraffin sections from the gonad to ascertain the somatic mosaic state for 45,X monosomy and 46,XY cells. The gonad consisted of cells with X and XY signals, which were further quantified in comparison with a normal control testis by a digital image analysis program. The average percentages of 45,X cells of this patient's gonad and a control testis were 39.0% and 5.7%, respectively (χ2 test, P < 0.001). SRY expression was absent in approximately 10% of precursor granulosa cells (FOXL2 positive) and precursor Sertoli/granulosa cells (both SOX9 and FOXL2 positive) within gonadoblastomas, confirming the involvement of 45,X cells. A combination of analysis of FISH and immunofluorescence for SRY in the gonadal tissue could identify 45,X cells in MGD with 46,XY. PMID:25860218

  15. Identification of X monosomy cells from a gonad of mixed gonadal dysgenesis with a 46,XY karyotype: case report.

    PubMed

    Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Hasegawa, Yukihiro; Morison, Ian M

    2015-04-01

    Mixed gonadal dysgenesis (MGD) is a disorder of sexual development that typically has a mosaic 45,X/46,XY karyotype. A 1-year-old infant with 46,XY identified by peripheral blood karyotype demonstrated clinical manifestations and gonadal pathologic features of MGD. Fluorescence in situ hybridization (FISH) for X and Y chromosomes and immunofluorescence for SRY along with testicular and ovarian lineage markers SOX9 and FOXL2, respectively, were performed on paraffin sections from the gonad to ascertain the somatic mosaic state for 45,X monosomy and 46,XY cells. The gonad consisted of cells with X and XY signals, which were further quantified in comparison with a normal control testis by a digital image analysis program. The average percentages of 45,X cells of this patient's gonad and a control testis were 39.0% and 5.7%, respectively (χ2 test, P < 0.001). SRY expression was absent in approximately 10% of precursor granulosa cells (FOXL2 positive) and precursor Sertoli/granulosa cells (both SOX9 and FOXL2 positive) within gonadoblastomas, confirming the involvement of 45,X cells. A combination of analysis of FISH and immunofluorescence for SRY in the gonadal tissue could identify 45,X cells in MGD with 46,XY.

  16. Fluorescent in situ hybridization (FISH) and high resolution karyotype analysis reveal a novel inversion duplication of 10q

    SciTech Connect

    Czarnecki, P.; Dyke, D.L. Van; Dowling, P.K.

    1994-09-01

    A white male born with dysmorphic features, including upslanting palpebral fissures, bilateral simian creases, posteriorly rotated ears, bitemporal narrowing, frontal bossing, camptodactyly and head circumference and weight less than the 5th percentile was found to have a de novo add(10)(q26.1). High resolution karyotype analysis revealed a novel chromosomal abnormality: 46,XY,inv dup(10)(q26.3-q25.1). Fluorescent in situ hybridization using a chromosome 10-specific painting probe (Oncor, Inc.) confirmed that the extra material was derived from chromosome 10. Duplication of 10q24 or 10q25 is associated with characteristic craniofacial malformations, minor malformations of the hands and feet, major malformations of the heart, skeleton, and kidneys and severe mental retardation. Our patient, currently 7 months old, has many of the skeletal and craniofacial manifestations of other patients, but is developmentally normal at this early age. This is the first FISH confirmation of a 10q duplication and demonstrates the utility of this technology in addition to karyotype analysis. Molecular studies to determine the parental origin and extent of the duplication are in progress, since the apparent lack of developmental delay was unexpected. Identification of the origin of duplicated material will help assist in genetic counseling by further delineating new genetic syndromes.

  17. Support vector data description model to map urban extent from National Polar-Orbiting Partnership Satellite-Visible Infrared Imaging Radiometer Suite nightlights and normalized difference vegetation index

    NASA Astrophysics Data System (ADS)

    Zhang, Jinshui; Zhou, Zhongwei; Shuai, Guanyuan; Liu, Hongli

    2016-04-01

    We explored a one-class classifier, the support vector data description (SVDD), using the Suomi National Polar-Orbiting Partnership Satellite-Visible Infrared Imaging Radiometer Suite and normalized difference vegetation index to map the urban extent, which was tested in the Beijing and Tianjin city group area. The urban edge-pixels were selected as training samples for SVDD based on a profile-based sampling method combining nighttime light value histograms. The results showed that the overall accuracy of SVDD was similar to the support vector machine (SVM) model. However, kappa coefficients of SVDD for highly developed cities were superior to SVM, as producer and user accuracies of SVDD were almost equal to show high agreement of urban and nonurban areas. For metropolitan areas, such as Beijing and Tianjin, the urban extent generated by SVDD is closer to the reference data. The R2 between the quantity of SVDD-estimated urban extent and population, 0.86, was higher than that obtained from SVM, 0.76, indicating that the estimated urban extent from the SVDD is more efficient for understanding the population development. The SVDD was further applied for three other representative metropolitans in China: Shanghai, Guangzhou, and Shenzhen to validate the SVDD's performance, and similar results were achieved. The success of the SVDD-based urban extent extraction improves our ability to map urban extent at regional and national scales.

  18. Analysis of the karyotype of expanded human adipose-derived stem cells for bone reconstruction of the maxillo-facial region.

    PubMed

    Bellotti, C; Stanco, D; Ragazzini, S; Romagnoli, L; Martella, E; Lazzati, S; Marchetti, C; Donati, D; Lucarelli, E

    2013-01-01

    Mesenchymal stem cells (MSC) and adipose-derived stem cells (ASC) were recently proposed for bone maxillofacial reconstruction in association with biomaterials. For this application MSC must be ex-vivo expanded in order to obtain, for a given volume of implanted biomaterial, a relevant number of bone forming cells. Previously conducted pre-clinical studies suggested that a concentration of 6 x 10(8) ASC associated with 900 mg of anorganic bovine bone (ABB) could be effective for human maxillary sinus floor elevation. A keystone issue to guarantee the quality and safety of Advanced Therapy Medicinal Products containing expanded MSC and ASC is their chromosome stability in culture: this topic has been widely investigated and conflicting results have been published. Abnormal karyotype of human ex-vivo expanded MSC and ASC was found by some authors, while, at the same time, several other studies showed the MSC and ASC karyotype to be normal. It is therefore important that all the results obtained on MSC and ASC karyotype analysis be published. Given this context, the aim of this manuscript, aim of this manuscript is to verify the karyotype stability of ASC in view of their applications in clinical trials. ASC obtained from the adipose tissue of 4 donors were expanded over extended culture time. Based on previous ASC expansions we hypothesized to be able to obtain 6 x 10(8) cells by passage 7. Karyotype analysis of 30 metaphases was planned to be investigated at passage 2, 7, and 15 in all the cultures. No abnormalities were found in the karyotype of two donors at all the passages tested, while a translocation was found in 2 metaphases of a donor at passage 7, but not at passage 15, and in the fourth donor in 5 metaphases a trisomy was found at passage 15. Chromosomal abnormalities were detected only after extended ASC expansion. Whether these anomalies can be related to risk for the patient's safety will have to be demonstrated by in-vivo studies.

  19. Sequential karyotyping in Burkitt lymphoma reveals a linear clonal evolution with increase in karyotype complexity and a high frequency of recurrent secondary aberrations.

    PubMed

    Aukema, Sietse M; Theil, Laura; Rohde, Marius; Bauer, Benedikt; Bradtke, Jutta; Burkhardt, Birgit; Bonn, Bettina R; Claviez, Alexander; Gattenlöhner, Stefan; Makarova, Olga; Nagel, Inga; Oschlies, Ilske; Pott, Christiane; Szczepanowski, Monika; Traulsen, Arne; Kluin, Philip M; Klapper, Wolfram; Siebert, Reiner; Murga Penas, Eva M

    2015-09-01

    Typical Burkitt lymphoma is characterized by an IG-MYC translocation and overall low genomic complexity. Clinically, Burkitt lymphoma has a favourable prognosis with very few relapses. However, the few patients experiencing disease progression and/or relapse have a dismal outcome. Here we report cytogenetic findings of seven cases of Burkitt lymphoma in which sequential karyotyping was performed at time of diagnosis and/or disease progression/relapse(s). After case selection, karyotype re-review and additional molecular analyses were performed in six paediatric cases, treated in Berlin-Frankfurt-Münster-Non-Hodgkin lymphoma study group trials, and one additional adult patient. Moreover, we analysed 18 cases of Burkitt lymphoma from the Mitelman database in which sequential karyotyping was performed. Our findings show secondary karyotypes to have a significant increase in load of cytogenetic aberrations with a mean number of 2, 5 and 8 aberrations for primary, secondary and third investigations. Importantly, this increase in karyotype complexity seemed to result from recurrent secondary chromosomal changes involving mainly trisomy 21, gains of 1q and 7q, losses of 6q, 11q, 13q, and 17p. In addition, our findings indicate a linear clonal evolution to be the predominant manner of cytogenetic evolution. Our data may provide a biological framework for the dismal outcome of progressive and relapsing Burkitt lymphoma. © 2015 John Wiley & Sons Ltd.

  20. First cytogenetic analysis of Ichthyoelephas humeralis (Günther, 1860) by conventional and molecular methods with comments on the karyotypic evolution in Prochilodontidae.

    PubMed

    Tursellino, Mauro Nirchio; Silva, Duílio Mazzoni Zerbinato de Andrade; Abad, César Quezada; Blacio, Wilmer Arnoldo Moreira; Romero, Omar Rogerio Sánchez; Oliveira, Claudio

    2016-01-01

    We used conventional cytogenetic techniques (Giemsa, C-banding, Ag-NOR), and fluorescent in situ hybridization (FISH) with 5S and 18S rDNA probes to investigate the karyotype and cytogenetic characteristics of Ichthyoelephas humeralis (Günther, 1860) from Ecuador. The specimens studied have a karyotype with 2n=54 biarmed chromosomes (32 M + 22 SM) and C-positive heterochromatin located on the centromeric, pericentromeric, interstitial, and terminal regions of some chromosomes. The nucleolus organizer regions occurred terminally on the long arm of chromosome pair 2. FISH confirmed the presence of only one 18S rDNA cluster with nonsyntenic localization with the 5S rDNA. Cytogenetic data allow us to refute the earlier morphological hypothesis of a sister relationship between Semaprochilodus Fowler, 1941 and Ichthyoelephas Posada Arango, 1909 and support the molecular proposal that Ichthyoelephas is a sister group to the monophyletic clade containing Prochilodus Agassiz, 1829 and Semaprochilodus.

  1. First cytogenetic analysis of Ichthyoelephas humeralis (Günther, 1860) by conventional and molecular methods with comments on the karyotypic evolution in Prochilodontidae

    PubMed Central

    Tursellino, Mauro Nirchio; Silva, Duílio Mazzoni Zerbinato de Andrade; Abad, César Quezada; Blacio, Wilmer Arnoldo Moreira; Romero, Omar Rogerio Sánchez; Oliveira, Claudio

    2016-01-01

    Abstract We used conventional cytogenetic techniques (Giemsa, C-banding, Ag-NOR), and fluorescent in situ hybridization (FISH) with 5S and 18S rDNA probes to investigate the karyotype and cytogenetic characteristics of Ichthyoelephas humeralis (Günther, 1860) from Ecuador. The specimens studied have a karyotype with 2n=54 biarmed chromosomes (32 M + 22 SM) and C-positive heterochromatin located on the centromeric, pericentromeric, interstitial, and terminal regions of some chromosomes. The nucleolus organizer regions occurred terminally on the long arm of chromosome pair 2. FISH confirmed the presence of only one 18S rDNA cluster with nonsyntenic localization with the 5S rDNA. Cytogenetic data allow us to refute the earlier morphological hypothesis of a sister relationship between Semaprochilodus Fowler, 1941 and Ichthyoelephas Posada Arango, 1909 and support the molecular proposal that Ichthyoelephas is a sister group to the monophyletic clade containing Prochilodus Agassiz, 1829 and Semaprochilodus. PMID:28123682

  2. Karyotypic similarity among Barycholos ternetzi and five species of the genus Eleutherodactylus from southeastern Brazil (Anura, Brachycephalidae).

    PubMed

    Campos, J R C; Ananias, Fernando; Haddad, Célio Fernando Baptista; Kasahara, Sanae

    2008-01-01

    have always shown 11 bivalents in diplotene and metaphase I cells. In all male specimens, metaphases II presented 11 chromosomes. Despite the observed discrepancies, the five species of Eleutherodactylus have a great uniformity in the 2n=22 karyotypes, suggesting an assemblage of species from southeastern and southern Brazil, in contrast to northern and northeastern assemblage which is characterized by higher diploid numbers. Undoubtedly, B. ternetzi could be included in that proposed assemblage, due to its karyotypic similarity with the Eleutherodactylus species, as evidenced in the present study. This fact strongly supports the close relationships of both genera, previously inferred on the basis of several characters shared by their species.

  3. The human autonomous karyotype and the origins of prenatal testing: children, pregnant women and early Down's syndrome cytogenetics, Madrid 1962-1975.

    PubMed

    Santesmases, María Jesús

    2014-09-01

    Through their ability to reveal and record abnormal chromosomes, whether inherited or accidentally altered, chromosomal studies, known as karyotyping, became the basis upon which medical genetics was constructed. The techniques involved became the visual evidence that confirmed a medical examination and were configured as a material culture for redefining health and disease, or the normal and the abnormal, in cytological terms. I will show that the study of foetal cells obtained by amniocentesis led to the stabilisation of karyotyping in its own right, while also keeping pregnant women under the vigilant medical eye. In the absence of any other examination, prenatal diagnosis by foetal karyotyping became autonomous from the foetal body. Although medical cytogenetics was practiced on an individual basis, data collected about patients over time contributed to the construction of population figures regarding birth defects. I study this complex trajectory by focussing on a Unit for Cytogenetics created in 1962 at the Clínica de la Concepción in Madrid. I incorporate the work and training of the clinicians who created the unit, and worked there as well as at other units in the large new hospitals of the national health care system built in Madrid during the mid-1960s and early 1970s. Copyright © 2014 Elsevier Ltd. All rights reserved.

  4. Prognostic impact of SNP array karyotyping in myelodysplastic syndromes and related myeloid malignancies

    PubMed Central

    Tiu, Ramon V.; Gondek, Lukasz P.; O'Keefe, Christine L.; Elson, Paul; Huh, Jungwon; Mohamedali, Azim; Kulasekararaj, Austin; Advani, Anjali S.; Paquette, Ronald; List, Alan F.; Sekeres, Mikkael A.; McDevitt, Michael A.

    2011-01-01

    Single nucleotide polymorphism arrays (SNP-As) have emerged as an important tool in the identification of chromosomal defects undetected by metaphase cytogenetics (MC) in hematologic cancers, offering superior resolution of unbalanced chromosomal defects and acquired copy-neutral loss of heterozygosity. Myelodysplastic syndromes (MDSs) and related cancers share recurrent chromosomal defects and molecular lesions that predict outcomes. We hypothesized that combining SNP-A and MC could improve diagnosis/prognosis and further the molecular characterization of myeloid malignancies. We analyzed MC/SNP-A results from 430 patients (MDS = 250, MDS/myeloproliferative overlap neoplasm = 95, acute myeloid leukemia from MDS = 85). The frequency and clinical significance of genomic aberrations was compared between MC and MC plus SNP-A. Combined MC/SNP-A karyotyping lead to higher diagnostic yield of chromosomal defects (74% vs 44%, P < .0001), compared with MC alone, often through detection of novel lesions in patients with normal/noninformative (54%) and abnormal (62%) MC results. Newly detected SNP-A defects contributed to poorer prognosis for patients stratified by current morphologic and clinical risk schemes. The presence and number of new SNP-A detected lesions are independent predictors of overall and event-free survival. The significant diagnostic and prognostic contributions of SNP-A–detected defects in MDS and related diseases underscore the utility of SNP-A when combined with MC in hematologic malignancies. PMID:21285439

  5. Description of karyotype in Hypostomus regani (Ihering, 1905) (Teleostei, oricariidae) from the Piumhi river in Brazil with comments on karyotype variation found in Hypostomus

    PubMed Central

    Mendes-Neto, Ernani de Oliveira; Vicari, Marcelo Ricardo; Artoni, Roberto Ferreira; Moreira-Filho, Orlando

    2011-01-01

    Abstract The paper represents a comparative cytogenetic analysis of three populations of Hypostomus regani in Brazil.Two populations belong to the Upper Paraná River Basin and the third one, the karyotype of which is described for the first time, was probably introduced into the São Francisco River Basin through transposition from the Piumhi River. Karyotype features of populations of Hypostomus regani from the Piracicaba and Tietê River Basins are also discussed. The occurrence of Hypostomus regani in the São Francisco River Basin is reported for the first time here. The study also revealed distinct differences in the location of the Ag-NORs between the analyzed populations that enable individuals from the Piumhi River, Mogi-Guaçu River and Tietê River to be distinguished from one another. Thus, the data obtained indicate the possibility of geographic variation fixing different karyotypes even in the same basin of origin. PMID:24260625

  6. Description of karyotype in Hypostomus regani (Ihering, 1905) (Teleostei, oricariidae) from the Piumhi river in Brazil with comments on karyotype variation found in Hypostomus.

    PubMed

    Mendes-Neto, Ernani de Oliveira; Vicari, Marcelo Ricardo; Artoni, Roberto Ferreira; Moreira-Filho, Orlando

    2011-01-01

    The paper represents a comparative cytogenetic analysis of three populations of Hypostomus regani in Brazil.Two populations belong to the Upper Paraná River Basin and the third one, the karyotype of which is described for the first time, was probably introduced into the São Francisco River Basin through transposition from the Piumhi River. Karyotype features of populations of Hypostomus regani from the Piracicaba and Tietê River Basins are also discussed. The occurrence of Hypostomus regani in the São Francisco River Basin is reported for the first time here. The study also revealed distinct differences in the location of the Ag-NORs between the analyzed populations that enable individuals from the Piumhi River, Mogi-Guaçu River and Tietê River to be distinguished from one another. Thus, the data obtained indicate the possibility of geographic variation fixing different karyotypes even in the same basin of origin.

  7. A case study evaluation of implementation of a care pathway to support normal birth in one English birth centre: anticipated benefits and unintended consequences

    PubMed Central

    Bick, Debra E; Rycroft-Malone, Jo; Fontenla, Marina

    2009-01-01

    Background The policy drive for the UK National Health Service (NHS) has focused on the need for high quality services informed by evidence of best practice. The introduction of care pathways and protocols to standardise care and support implementation of evidence into practice has taken place across the NHS with limited evaluation of their impact. A multi-site case study evaluation was undertaken to assess the impact of use of care pathways and protocols on clinicians, service users and service delivery. One of the five sites was a midwifery-led Birth Centre, where an adapted version of the All Wales Clinical Pathway for Normal Birth had been implemented. Methods The overarching framework was realistic evaluation. A case study design enabled the capture of data on use of the pathway in the clinical setting, use of multiple methods of data collection and opportunity to study and understand the experiences of clinicians and service users whose care was informed by the pathway. Women attending the Birth Centre were recruited at their 36 week antenatal visit. Episodes of care during labour were observed, following which the woman and the midwife who cared for her were interviewed about use of the pathway. Interviews were also held with other key stakeholders from the study site. Qualitative data were content analysed. Results Observations were undertaken of four women during labour. Eighteen interviews were conducted with clinicians and women, including the women whose care was observed and the midwives who cared for them, senior midwifery managers and obstetricians. The implementation of the pathway resulted in a number of anticipated benefits, including increased midwifery confidence in skills to support normal birth and promotion of team working. There were also unintended consequences, including concerns about a lack of documentation of labour care and negative impact on working relationships with obstetric and other midwifery colleagues. Women were unaware their

  8. Diagnostic accuracy of the BACs-on-Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series.

    PubMed

    Choy, K W; Kwok, Y K; Cheng, Y K Y; Wong, K M; Wong, H K; Leung, K O; Suen, K W; Adler, K; Wang, C C; Lau, T K; Schermer, M J; Lao, T T; Leung, T Y

    2014-09-01

    To evaluate the diagnostic performance of the BACs-on-Beads(™) (BoBs(™)) assay for prenatal detection of chromosomal abnormalities. Retrospective study. Tertiary prenatal diagnosis centre. Women referred for prenatal diagnosis. We retrieved 2153 archived DNA samples collected between January 2010 and August 2011 for the BoBs(™) assay. These samples had previously been tested by quantitative fluorescence polymerase chain reaction (QF-PCR) and karyotyping. In the BoBs(™) assay a sample was defined as normal disomic when the ratio of the fluorescence intensities in a chromosome locus lay within the threshold (mean ratio ± 2SD), and as deleted or duplicated when the ratio was below the lower threshold (0.6-0.8) or above the upper threshold (1.3-1.4), respectively. The BoBs(™) results were further validated by microarray and compared in a blinded manner with the original QF-PCR and karyotyping results. Concordance of any numerical, structural, and submicroscopic chromosomal abnormalities between the methods. BACs-on-Beads(™) was similar to karyotyping and QF-PCR in detecting trisomy 13, trisomy 18, trisomy 21, and sex chromosomal aneuploidies, and superior to QF-PCR in detecting major structural abnormalities (53.3 versus 13.3%) and mosaicism (28.6 versus 0%) involving chromosomal abnormalities other than the common aneuploidies. BoBs(™) detected six microdeletion syndromes missed by karyotyping and QF-PCR; however, BoBs(™) missed two cases of triploidy identified by QF-PCR. Therefore, the sensitivity of BoBs(™) is 96.7% (95% CI 92.6-98.7%), and its specificity is 100% (95% CI 99.8-100%). BACs-on-Beads(™) can replace QF-PCR for triaging in prenatal diagnosis, and gives a better diagnostic yield than current rapid aneuploidy tests. © 2014 Royal College of Obstetricians and Gynaecologists.

  9. Karyotyping human chromosomes by optical and X-ray ptychography methods.

    PubMed

    Shemilt, Laura; Verbanis, Ephanielle; Schwenke, Joerg; Estandarte, Ana K; Xiong, Gang; Harder, Ross; Parmar, Neha; Yusuf, Mohammed; Zhang, Fucai; Robinson, Ian K

    2015-02-03

    Sorting and identifying chromosomes, a process known as karyotyping, is widely used to detect changes in chromosome shapes and gene positions. In a karyotype the chromosomes are identified by their size and therefore this process can be performed by measuring macroscopic structural variables. Chromosomes contain a specific number of basepairs that linearly correlate with their size; therefore, it is possible to perform a karyotype on chromosomes using their mass as an identifying factor. Here, we obtain the first images, to our knowledge, of chromosomes using the novel imaging method of ptychography. We can use the images to measure the mass of chromosomes and perform a partial karyotype from the results. We also obtain high spatial resolution using this technique with synchrotron source x-rays. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  10. Karyotyping Human Chromosomes by Optical and X-Ray Ptychography Methods

    PubMed Central

    Shemilt, Laura; Verbanis, Ephanielle; Schwenke, Joerg; Estandarte, Ana K.; Xiong, Gang; Harder, Ross; Parmar, Neha; Yusuf, Mohammed; Zhang, Fucai; Robinson, Ian K.

    2015-01-01

    Sorting and identifying chromosomes, a process known as karyotyping, is widely used to detect changes in chromosome shapes and gene positions. In a karyotype the chromosomes are identified by their size and therefore this process can be performed by measuring macroscopic structural variables. Chromosomes contain a specific number of basepairs that linearly correlate with their size; therefore, it is possible to perform a karyotype on chromosomes using their mass as an identifying factor. Here, we obtain the first images, to our knowledge, of chromosomes using the novel imaging method of ptychography. We can use the images to measure the mass of chromosomes and perform a partial karyotype from the results. We also obtain high spatial resolution using this technique with synchrotron source x-rays. PMID:25650937

  11. Karyotypes of two rare rodents, Hapalomys delacouri and Typhlomys cinereus (Mammalia, Rodentia), from Vietnam.

    PubMed

    Abramov, Alexei V; Aniskin, Vladimir M; Rozhnov, Viatcheslav V

    2012-01-01

    Karyotypes of Hapalomys delacouri (Rodentia, Muridae) and Typhlomys cinereus (Rodentia, Platacanthomyidae) from Vietnam are described for the first time. The diploid karyotype of Hapalomys delacouri is 38 (NFa=48), consisting of six pairs of bi-armed and 12 pairs of acrocentric autosomes decreasing in size; plus a large metacentric X chromosome and Y chromosome, also metacentric, that is equal in size to the largest pair of acrocentric autosomes. The newly described karyotype differs significantly from that reported for Hapalomys delacouri from northern Thailand. The latter record very likely represents a different species of Hapalomys, possibly the taxon Hapalomys pasquieri described from north-central Laos.The diploid karyotype of Typhlomys cinereus is 38 (NF=48), consisting of five pairs of meta- to submetacentric and 14 pairs of acrocentric chromosomes varying in size from large to small; sex chromosomes were not defined.

  12. The karyotype of Adenomera diptyx (Boettger 1885) (Anura, Leptodactylidae) from northeastern Argentina

    PubMed Central

    Zaracho, Víctor Hugo; Hernando, Alejandra Beatriz

    2011-01-01

    In this work we analyzed the karyotype of five populations of Adenomera diptyx from Argentina after conventional staining, Ag-NOR and C-banding. All specimens presented 2n = 26 and FN = 34. The karyotype was formed by three submetacentric, one metacentric and nine telocentric pairs. Silver staining revealed that the NOR was located on a secondary constriction in pair 7. C- banding evidenced constitutive heterochromatin at the pericentromeric region of all chromosomes. The karyotype of A. diptyx was similar to that of A. hylaedactyla (2n = 26, FN = 34) and different from that of A. andreae (2n = 26, FN = 40) in the fundamental number and secondary constriction position. It also differed from the karyotypes of A. marmorata (2n = 24, FN = 34 and 36) and of A. aff. bokermanni (2n = 23, FN = 34) in diploid number. Until a comprehensive cytogenetic analysis of all the species of the genus is performed, their chromosome evolution will remain poorly understood. PMID:21637549

  13. Karyotyping human chromosomes by optical and x-ray ptychography methods

    DOE PAGES

    Shemilt, Laura; Verbanis, Ephanielle; Schwenke, Joerg; ...

    2015-02-01

    Sorting and identifying chromosomes, a process known as karyotyping, is widely used to detect changes in chromosome shapes and gene positions. In a karyotype the chromosomes are identified by their size and therefore this process can be performed by measuring macroscopic structural variables. Chromosomes contain a specific number of basepairs that linearly correlate with their size; therefore, it is possible to perform a karyotype on chromosomes using their mass as an identifying factor. Here, we obtain the first images, to our knowledge, of chromosomes using the novel imaging method of ptychography. We can use the images to measure the massmore » of chromosomes and perform a partial karyotype from the results. Lastly, we also obtain high spatial resolution using this technique with synchrotron source x-rays.« less

  14. Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype.

    PubMed

    Girardin, C M; Deal, C; Lemyre, E; Paquette, J; Lumbroso, R; Beitel, L K; Trifiro, M A; Van Vliet, G

    2009-09-01

    A phenotypic female with complete androgen insensitivity from a maternally inherited mutation in the androgen receptor had a 47,XXY karyotype. Partial maternal X isodisomy explained the expression of androgen insensitivity despite the presence of 2 X chromosomes.

  15. Different fusion configurations of evolutionarily conserved segments in karyotypes of Potamochoerus porcus and Phacochoerus africanus.

    PubMed

    Musilova, P; Kubickova, S; Hornak, M; Cernohorska, H; Vahala, J; Rubes, J

    2010-01-01

    The karyotype of the red river hog Potamochoerus porcus (2n = 34) differs from that of the domestic pig by the presence of 2 fusion chromosomes homologous to pig chromosomes 13/16 and 15/17. Moreover, chromosomes corresponding to pig chromosomes 13/16 and 1 are both acrocentric. Hybridization with region-specific painting probes confirmed tandem fusion of pig chromosomes 13 and 16, and a pericentric inversion of the pig chromosome 1p equivalent in P. porcus. The chromosome complement of the wart hog Phacochoerus africanus (2n = 34) differs from the pig karyotype in 2 centric fusions, 13/16 and 15/17. Karyotypic relationships among different Suidae species are discussed in the article. Besides fusions 13/16 and 15/17, which are common to several suids, another fusion of pig chromosomes 14 and 18 is suggested to exist in the karyotype of Sus cebifrons. Copyright (c) 2010 S. Karger AG, Basel.

  16. The karyotype of Typhlonectes compressicauda (Amphibia: Gymnophiona) with comments on chromosome evolution in caecilians.

    PubMed

    Wake, M H; Hafner, J C; Hafner, M S; Klosterman, L L; Patton, J L

    1980-02-15

    Typhlonectes compressicauda has a diploid number of 28. Its karyotype, when compared to that of other caecilians, suggests some discordance in the hypothesized model of chromosome reduction in the evolution of amphibian lineages.

  17. Karyotypic evolution and phylogenetic relationships in the order Chiroptera as revealed by G-banding comparison and chromosome painting.

    PubMed

    Ao, Lei; Mao, Xiuguang; Nie, Wenhui; Gu, Xiaoming; Feng, Qing; Wang, Jinhuan; Su, Weiting; Wang, Yingxiang; Volleth, Marianne; Yang, Fengtang

    2007-01-01

    Bats are a unique but enigmatic group of mammals and have a world-wide distribution. The phylogenetic relationships of extant bats are far from being resolved. Here, we investigated the karyotypic relationships of representative species from four families of the order Chiroptera by comparative chromosome painting and banding. A complete set of painting probes derived from flow-sorted chromosomes of Myotis myotis (family Vespertilionidae) were hybridized onto metaphases of Cynopterus sphinx (2n = 34, family Pteropodidae), Rhinolophus sinicus (2n=36, family Rhinolophidae) and Aselliscus stoliczkanus (2n=30, family Hipposideridae) and delimited 27, 30 and 25 conserved chromosomal segments in the three genomes, respectively. The results substantiate that Robertsonian translocation is the main mode of chromosome evolution in the order Chiroptera, with extensive conservation of whole chromosomal arms. The use of M. myotis (2n=44) probes has enabled the integration of C. sphinx, R. sinicus and A. stoliczkanus chromosomes into the previously established comparative maps between human and Eonycteris spelaea (2n=36), Rhinolophus mehelyi (2n=58), Hipposideros larvatus (2n=32), and M. myotis. Our results provide the first cytogenetic signature rearrangement that supports the grouping of Pteropodidae and Rhinolophoidea in a common clade (i.e. Pteropodiformes or Yinpterochiroptera) and thus improve our understanding on the karyotypic relationships and genome phylogeny of these bat species.

  18. Karyotypic and molecular identification of laboratory stocks of the South American fruit fly Anastrepha fraterculus (Wied) (Diptera: Tephritidae).

    PubMed

    Basso, Alicia; Sonvico, Ariane; Quesada-Allue, Luis A; Manso, Fanny

    2003-08-01

    The taxonomic status of the tephritid pest Anastrepha fraterculus (Wied.) is a controversial subject, mainly because of misinterpretation of the observed genetic variation. In this work, the different karyotypes and DNA polymorphism of a geographically defined population from Northeastern Argentina were studied, using derived stocks maintained in the laboratory during 25 generations. The karyotypes were analyzed using C-banding and N-banding techniques, while DNA analysis was performed through the DNA polymerase chain reaction (PCR). The variants isolated from both the wild Montecarlo population and the derived laboratory stocks were fully compatible and are present in other wild populations from South Brazil (lat 31 degrees 30' S) to Mid-Argentina (lat 34 degrees 30' S). Single-pair crosses among stocks carrying different chromosomal variants demonstrated the absence of isolation barriers. The polymorphic fragments isolated by RAPDs/PCR showed polymorphisms among stocks whereas the analysis of rDNA ITS1 exhibit a unique ITS1 length. Our results seem to indicate that all the examined variants belong to a single species with extended polymorphism and therefore do not support the hypothesis that the extended chromosomal polymorphism in A. fraterculus implies the existence of a complex of cryptic species.

  19. Repeated Whole-Genome Duplication, Karyotype Reshuffling, and Biased Retention of Stress-Responding Genes in Buckler Mustard.

    PubMed

    Geiser, Céline; Mandáková, Terezie; Arrigo, Nils; Lysak, Martin A; Parisod, Christian

    2016-01-01

    Whole-genome duplication (WGD) is usually followed by gene loss and karyotype repatterning. Despite evidence of new adaptive traits associated with WGD, the underpinnings and evolutionary significance of such genome fractionation remain elusive. Here, we use Buckler mustard (Biscutella laevigata) to infer processes that have driven the retention of duplicated genes after recurrent WGDs. In addition to the β- and α-WGD events shared by all Brassicaceae, cytogenetic and transcriptome analyses revealed two younger WGD events that occurred at times of environmental changes in the clade of Buckler mustard (Biscutelleae): a mesopolyploidy event from the late Miocene that was followed by considerable karyotype reshuffling and chromosome number reduction and a neopolyploidy event during the Pleistocene. Although a considerable number of the older duplicates presented signatures of retention under positive selection, the majority of retained duplicates arising from the younger mesopolyploidy WGD event matched predictions of the gene balance hypothesis and showed evidence of strong purifying selection as well as enrichment in gene categories responding to abiotic stressors. Retention of large stretches of chromosomes for both genomic copies supported the hypothesis that cycles of WGD and biased fractionation shaped the genome of this stress-tolerant polypolyloid, promoting the adaptive recruitment of stress-responding genes in the face of environmental challenges.

  20. The significance of cytogenetics for the study of karyotype evolution and taxonomy of water bugs (Heteroptera, Belostomatidae) native to Argentina

    PubMed Central

    Gabriela, Chirino Mónica; Papeschi, Alba Graciela; Bressa, María José

    2013-01-01

    Abstract Male meiosis behaviour and heterochromatin characterization of three big water bug species were studied. Belostoma dentatum (Mayr, 1863), Belostoma elongatum Montandon, 1908 and Belostoma gestroi Montandon, 1903 possess 2n = 26 + X1X2Y (male). In these species, male meiosis is similar to that previously observed in Belostoma Latreille, 1807. In general, autosomal bivalents show a single chiasma terminally located and divide reductionally at anaphase I. On the other hand, sex chromosomes are achiasmatic, behave as univalents and segregate their chromatids equationally at anaphase I. The analysis of heterochromatin distribution and composition revealed a C-positive block at the terminal region of all autosomes in Belostoma dentatum, a C-positive block at the terminal region and C-positive interstitial dots on all autosomes in Belostoma elongatum, and a little C-positive band at the terminal region of autosomes in Belostoma gestroi. A C-positive band on one bivalent was DAPI negative/CMA3 positive in the three species. The CMA3-bright band, enriched in GC base pairs, was coincident with a NOR detected by FISH. The results obtained support the hypothesis that all species of Belostoma with multiple sex chromosome systems preserve NORs in autosomal bivalents. The karyotype analyses allow the cytogenetic characterization and identification of these species belonging to a difficult taxonomic group. Besides, the cytogenetic characterization will be useful in discussions about evolutionary trends of the genome organization and karyotype evolution in this genus. PMID:24260694

  1. Distribution of Karyotypes of the Cryptocercus punctulatus Species Complex (Blattodea: Cryptocercidae) in Great Smoky Mountains National Park.

    PubMed

    Nalepa, Christine A; Shimada, Keisuke; Maekawa, Kiyoto; Luykx, Peter

    2017-03-01

    During the period between 1999 and 2006, wood-feeding cockroaches in the Cryptocercus punctulatus Scudder species complex were collected throughout Great Smoky Mountains National Park, USA. The chromosome numbers of insects from 59 sites were determined, and phylogenetic analyses were performed based on mitochondrial COII and nuclear ITS2 DNA. The distribution of the three male karyotypes found in the park (2n = 37, 39, and 45) is mapped and discussed in relation to recent disturbances and glacial history. Clades of the three karyotype groups meet near the ridgeline separating North Carolina from Tennessee in the center of the park, suggesting that these may have originated from separate lower elevation refugia after the last glacial maximum. The timing of divergence and a significant correlation between elevation difference and genetic distance in two of the clades supports this hypothesis. The ecological role of the cockroaches in the park is discussed. © The Authors 2017. Published by Oxford University Press on behalf of Entomological Society of America.

  2. Repeated Whole-Genome Duplication, Karyotype Reshuffling, and Biased Retention of Stress-Responding Genes in Buckler Mustard

    PubMed Central

    Geiser, Céline; Mandáková, Terezie; Arrigo, Nils

    2016-01-01

    Whole-genome duplication (WGD) is usually followed by gene loss and karyotype repatterning. Despite evidence of new adaptive traits associated with WGD, the underpinnings and evolutionary significance of such genome fractionation remain elusive. Here, we use Buckler mustard (Biscutella laevigata) to infer processes that have driven the retention of duplicated genes after recurrent WGDs. In addition to the β- and α-WGD events shared by all Brassicaceae, cytogenetic and transcriptome analyses revealed two younger WGD events that occurred at times of environmental changes in the clade of Buckler mustard (Biscutelleae): a mesopolyploidy event from the late Miocene that was followed by considerable karyotype reshuffling and chromosome number reduction and a neopolyploidy event during the Pleistocene. Although a considerable number of the older duplicates presented signatures of retention under positive selection, the majority of retained duplicates arising from the younger mesopolyploidy WGD event matched predictions of the gene balance hypothesis and showed evidence of strong purifying selection as well as enrichment in gene categories responding to abiotic stressors. Retention of large stretches of chromosomes for both genomic copies supported the hypothesis that cycles of WGD and biased fractionation shaped the genome of this stress-tolerant polypolyloid, promoting the adaptive recruitment of stress-responding genes in the face of environmental challenges. PMID:26668305

  3. The significance of cytogenetics for the study of karyotype evolution and taxonomy of water bugs (Heteroptera, Belostomatidae) native to Argentina.

    PubMed

    Gabriela, Chirino Mónica; Papeschi, Alba Graciela; Bressa, María José

    2013-01-01

    Male meiosis behaviour and heterochromatin characterization of three big water bug species were studied. Belostoma dentatum (Mayr, 1863), Belostoma elongatum Montandon, 1908 and Belostoma gestroi Montandon, 1903 possess 2n = 26 + X1X2Y (male). In these species, male meiosis is similar to that previously observed in Belostoma Latreille, 1807. In general, autosomal bivalents show a single chiasma terminally located and divide reductionally at anaphase I. On the other hand, sex chromosomes are achiasmatic, behave as univalents and segregate their chromatids equationally at anaphase I. The analysis of heterochromatin distribution and composition revealed a C-positive block at the terminal region of all autosomes in Belostoma dentatum, a C-positive block at the terminal region and C-positive interstitial dots on all autosomes in Belostoma elongatum, and a little C-positive band at the terminal region of autosomes in Belostoma gestroi. A C-positive band on one bivalent was DAPI negative/CMA3 positive in the three species. The CMA3-bright band, enriched in GC base pairs, was coincident with a NOR detected by FISH. The results obtained support the hypothesis that all species of Belostoma with multiple sex chromosome systems preserve NORs in autosomal bivalents. The karyotype analyses allow the cytogenetic characterization and identification of these species belonging to a difficult taxonomic group. Besides, the cytogenetic characterization will be useful in discussions about evolutionary trends of the genome organization and karyotype evolution in this genus.

  4. Clinical validity of karyotyping for the diagnosis of chromosomal imbalance following array comparative genomic hybridisation.

    PubMed

    Gekas, Jean; Vallée, Maud; Castonguay, Lysanne; Laframboise, Rachel; Maranda, Bruno; Piedboeuf, Bruno; Rousseau, François

    2011-12-01

    Array comparative genomic hybridisation (aCGH) represents a major advance in the ability to detect chromosomal imbalances (CI). A recent meta-analysis recommended aCGH for replacing karyotyping for patients with unexplained disabilities. However, favouring aCGH over karyotyping must be based on solid evidence due to the major implications of selecting a preferential diagnostic tool. A prospective study of 376 samples was conducted to assess the relevance of karyotyping after a first-tier aCGH in patients with unexplained disabilities. aCGH detected CI in 28.7% of the cases. Out of 376 patients, 288 had undergone parallel karyotyping testing: 69.8% (201/288) showed similar results for both aCGH and karyotyping. For patients with a CI detected by aCGH, 7.9% (7/89) showed similar results for both aCGH and karyotyping. Among 20 patients with abnormal karyotyping, 13 showed dissimilar results compared to aCGH analysis: 4 patients (1.4%) had balanced rearrangements and 9 patients (3.1%) had additional chromosomal anomalies unseen using aCGH. This rate of unseen chromosomal anomalies is far superior to the previously estimated 0.5-0.78% prevalence and affects 10.1% (9/89) of patients with CI detected by aCGH in the tested population. Since the clinical significance of CI identified by aCGH might be influenced by such discrepancies between the two methods, these may in turn have an impact on clinical diagnosis and patient counselling. It is proposed that each genetic laboratory should evaluate the relevance of karyotyping for all first-tier abnormal aCGH results in order to include the genomic (chromosomal) aspects of the aCGH findings in the diagnosis.

  5. [open quotes]PCR karyotype[close quotes] of monochromosomal somatic cell hybrids

    SciTech Connect

    Ning, Yi; Pereira-Smith, O.M. Baylor College of Medicine, Houston, TX ); Lovell, M.; Cooley, L.D. )

    1993-06-01

    Following fusion of human diploid fibroblast-derived microcells with mouse A9 cells, the authors isolated seven monochromosomal hybrids containing a single human chromosome 2, 3, 5, 12, 15, 20, or 22. Cytogenetic analysis as well as PCR karyotyping (chromosome-specific banding pattern generated by Alu-PCR) was performed on all the hybrids. They present, for the first time, the specific PCR karyotypes of human chromosome 2 and 20. 7 refs., 2 figs.

  6. [Result survey analysis of prenatal chromosome karyotyping in an external quality assessment program].

    PubMed

    Wang, Wei; Chen, Yuanyuan; Chen, Xi; Zhong, Kun; He, Falin; Zhang, Yan; Bao, Liming; Zou, Lin; Wang, Zhiguo

    2014-08-01

    To analyze the results of prenatal karyotype of the external quality assessment program in 2013 in order to provide references and recommendations for improving the capability and performances of karyotype analysis of prenatal screening laboratories. Five lots of quality control cell photos were sent to 500 laboratories. The participants were asked to decide whether the photos have demonstrated any abnormal karyotype and determine the abnormal type. The results should be submitted before the deadline and compared with the standard results to evaluate the performances of the laboratory. One hundred forty three laboratories have returned their karyotype results for the survey. The standard answers were 7,XX,+18, 46,X,i(X)(q10), 46,XY,i(21)(q10) or 46,XY,+21,der(21;21)(q10;q10), 46,XY and 47,XY,+21 in sequential order, which were used to estimate the score of each participant. The pass rates for five lots were 97.9%, 97.2%, 95.8%, 100.0% and 97.9%, respectively. The total pass rate was 97.7%. The error rates were 2.1%, 2.8%, 4.2%, 0 and 2.1%, respectively. The total error rate was 2.3%. Some laboratories did not correctly identify the abnormal karyotypes, while some could not determine the right type of karyotype. The external quality assessment program of prenatal diagnosis of karyotype analysis should be conducted annually in order to improve the capability and performances of karyotype analysis of prenatal screening laboratories.

  7. Inheritance of balanced translocation t(17; 22) from a Down syndrome mother to a phenotypically normal daughter.

    PubMed

    Liu, X Y; Jiang, Y T; Wang, R X; Luo, L L; Liu, Y H; Liu, R Z

    2015-08-28

    We report that a 30-year-old woman with mental retardation was referred for prenatal diagnoses during pregnancy. An ultrasound scan showed that the heart structure and function of the fetus were normal. Cytogenetic analysis showed that the female karyotype was 47,XX, t(17; 22) (q21; q11), +21. The woman's husband had a normal male karyotype and was phenotypically normal. During this first pregnancy, an amniocentesis, which was done at 19 weeks, revealed that the fetal karyotype was 46,XX, t(17; 22) (q21; q11). Fluorescence in situ hybridization testing of amniotic fluid gave a normal result for chromosome 21. The child was a phenotypically normal female baby.

  8. Opposite risk patterns for autism and schizophrenia are associated with normal variation in birth size: phenotypic support for hypothesized diametric gene-dosage effects.

    PubMed

    Byars, Sean G; Stearns, Stephen C; Boomsma, Jacobus J

    2014-11-07

    Opposite phenotypic and behavioural traits associated with copy number variation and disruptions to imprinted genes with parent-of-origin effects have led to the hypothesis that autism and schizophrenia share molecular risk factors and pathogenic mechanisms, but a direct phenotypic comparison of how their risks covary has not been attempted. Here, we use health registry data collected on Denmark's roughly 5 million residents between 1978 and 2009 to detect opposing risks of autism and schizophrenia depending on normal variation (mean ± 1 s.d.) in adjusted birth size, which we use as a proxy for diametric gene-dosage variation in utero. Above-average-sized babies (weight, 3691-4090 g; length, 52.8-54.3 cm) had significantly higher risk for autism spectrum (AS) and significantly lower risk for schizophrenia spectrum (SS) disorders. By contrast, below-average-sized babies (2891-3290 g; 49.7-51.2 cm) had significantly lower risk for AS and significantly higher risk for SS disorders. This is the first study directly comparing autism and schizophrenia risks in the same population, and provides the first large-scale empirical support for the hypothesis that diametric gene-dosage effects contribute to these disorders. Only the kinship theory of genomic imprinting predicts the opposing risk patterns that we discovered, suggesting that molecular research on mental disease risk would benefit from considering evolutionary theory. © 2014 The Author(s) Published by the Royal Society. All rights reserved.

  9. Analysis of variance, normal quantile-quantile correlation and effective expression support of pooled expression ratio of reference genes for defining expression stability.

    PubMed

    Priyadarshi, Himanshu; Das, Rekha; Kumar, Shivendra; Kishore, Pankaj; Kumar, Sujit

    2017-01-01

    Identification of a reference gene unaffected by the experimental conditions is obligatory for accurate measurement of gene expression through relative quantification. Most existing methods directly analyze variability in crossing point (Cp) values of reference genes and fail to account for template-independent factors that affect Cp values in their estimates. We describe the use of three simple statistical methods namely analysis of variance (ANOVA), normal quantile-quantile correlation (NQQC) and effective expression support (EES), on pooled expression ratios of reference genes in a panel to overcome this issue. The pooling of expression ratios across the genes in the panel nullify the sample specific effects uniformly affecting all genes that are falsely reflected as instability. Our methods also offer the flexibility to include sample specific PCR efficiencies in estimations, when available, for improved accuracy. Additionally, we describe a correction factor from the ANOVA method to correct the relative fold change of a target gene if no truly stable reference gene could be found in the analyzed panel. The analysis is described on a synthetic data set to simplify the explanation of the statistical treatment of data.

  10. Comparative mapping and rapid karyotypic evolution in the genus helianthus.

    PubMed Central

    Burke, John M; Lai, Zhao; Salmaso, Marzia; Nakazato, Takuya; Tang, Shunxue; Heesacker, Adam; Knapp, Steven J; Rieseberg, Loren H

    2004-01-01

    Comparative genetic linkage maps provide a powerful tool for the study of karyotypic evolution. We constructed a joint SSR/RAPD genetic linkage map of the Helianthus petiolaris genome and used it, along with an integrated SSR genetic linkage map derived from four independent H. annuus mapping populations, to examine the evolution of genome structure between these two annual sunflower species. The results of this work indicate the presence of 27 colinear segments resulting from a minimum of eight translocations and three inversions. These 11 rearrangements are more than previously suspected on the basis of either cytological or genetic map-based analyses. Taken together, these rearrangements required a minimum of 20 chromosomal breakages/fusions. On the basis of estimates of the time since divergence of these two species (750,000-1,000,000 years), this translates into an estimated rate of 5.5-7.3 chromosomal rearrangements per million years of evolution, the highest rate reported for any taxonomic group to date. PMID:15166168

  11. Identification of an unusual marker chromosome by spectral karyotyping.

    PubMed

    Huang, B; Ning, Y; Lamb, A N; Sandlin, C J; Jamehdor, M; Ried, T; Bartley, J

    1998-12-04

    We ascertained a newborn girl with multiple congenital anomalies including severe hypotonia, cardiovascular defects, hearing loss, central nervous system anomalies, and facial anomalies. The infant died at 12 days. Cytogenetic analysis showed a de novo supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) with a combination of chromosome specific alpha-satellite probes and an all-human centromere probe failed to show hybridization to the marker, indicating that the marker chromosome lacked detectable alpha satellite sequences. Spectral karyotyping (SKY) was performed and showed that the marker was chromosome 15 in origin. This was confirmed by FISH with a 15q specific subtelomerie probe, which showed hybridization to both ends of the marker chromosome. Based on FISH information and G-banding pattern, the marker was determined to be an inverted duplication of 15q25-qter, leading to partial tetrasomy for chromosome 15. Although the marker chromosome lacked detectable centromeric alpha-satellite sequences, it seemed to have a functional centromere as it is mitotically stable. This observation is consistent with previous studies on acentric marker chromosomes, which suggested that the DNA sequence at the breakpoint could function similarly to alpha-satellite sequences once activated through marker formation.

  12. Hematopoietic Cell Transplantation Outcomes in Monosomal Karyotype Myeloid Malignancies.

    PubMed

    Pasquini, Marcelo C; Zhang, Mei-Jie; Medeiros, Bruno C; Armand, Philippe; Hu, Zhen-Huan; Nishihori, Taiga; Aljurf, Mahmoud D; Akpek, Görgün; Cahn, Jean-Yves; Cairo, Mitchell S; Cerny, Jan; Copelan, Edward A; Deol, Abhinav; Freytes, César O; Gale, Robert Peter; Ganguly, Siddhartha; George, Biju; Gupta, Vikas; Hale, Gregory A; Kamble, Rammurti T; Klumpp, Thomas R; Lazarus, Hillard M; Luger, Selina M; Liesveld, Jane L; Litzow, Mark R; Marks, David I; Martino, Rodrigo; Norkin, Maxim; Olsson, Richard F; Oran, Betul; Pawarode, Attaphol; Pulsipher, Michael A; Ramanathan, Muthalagu; Reshef, Ran; Saad, Ayman A; Saber, Wael; Savani, Bipin N; Schouten, Harry C; Ringdén, Olle; Tallman, Martin S; Uy, Geoffrey L; Wood, William A; Wirk, Baldeep; Pérez, Waleska S; Batiwalla, Minoo; Weisdorf, Daniel J

    2016-02-01

    The presence of monosomal karyotype (MK+) in acute myeloid leukemia (AML) is associated with dismal outcomes. We evaluated the impact of MK+ in AML (MK+AML, n = 240) and in myelodysplastic syndrome (MDS) (MK+MDS, n = 221) on hematopoietic cell transplantation outcomes compared with other cytogenetically defined groups (AML, n = 3360; MDS, n = 1373) as reported to the Center for International Blood and Marrow Transplant Research from 1998 to 2011. MK+ AML was associated with higher disease relapse (hazard ratio, 1.98; P < .01), similar transplantation-related mortality (TRM) (hazard ratio, 1.01; P = .90), and worse survival (hazard ratio, 1.67; P < .01) compared with those outcomes for other cytogenetically defined AML. Among patients with MDS, MK+ MDS was associated with higher disease relapse (hazard ratio, 2.39; P < .01), higher TRM (hazard ratio, 1.80; P < .01), and worse survival (HR, 2.02; P < .01). Subset analyses comparing chromosome 7 abnormalities (del7/7q) with or without MK+ demonstrated higher mortality for MK+ disease in for both AML (hazard ratio, 1.72; P < .01) and MDS (hazard ratio, 1.79; P < .01). The strong negative impact of MK+ in myeloid malignancies was observed in all age groups and using either myeloablative or reduced-intensity conditioning regimens. Alternative approaches to mitigate disease relapse in this population are needed.

  13. Hematopoietic Cell Transplantation Outcomes in Monosomal Karyotype Myeloid Malignancies

    PubMed Central

    Pasquini, Marcelo C.; Zhang, Mei-Jie; Medeiros, Bruno C.; Armand, Philippe; Hu, Zhen-Huan; Nishihori, Taiga; Aljurf, Mahmoud D.; Akpek, Görgün; Cahn, Jean-Yves; Cairo, Mitchell S.; Cerny, Jan; Copelan, Edward A.; Deol, Abhinav; Freytes, César O.; Gale, Robert Peter; Ganguly, Siddhartha; George, Biju; Gupta, Vikas; Hale, Gregory A.; Kamble, Rammurti T.; Klumpp, Thomas R.; Lazarus, Hillard M.; Luger, Selina M.; Liesveld, Jane L.; Litzow, Mark R.; Marks, David I.; Martino, Rodrigo; Norkin, Maxim; Olsson, Richard F.; Oran, Betul; Pawarode, Attaphol; Pulsipher, Michael A.; Ramanathan, Muthalagu; Reshef, Ran; Saad, Ayman A.; Saber, Wael; Savani, Bipin N.; Schouten, Harry C.; Ringdén, Olle; Tallman, Martin S.; Uy, Geoffrey L.; Wood, William A.; Wirk, Baldeep; Pérez, Waleska S.; Batiwalla, Minoo; Weisdorf, Daniel J.

    2015-01-01

    The presence of monosomal karyotype (MK+) in acute myeloid leukemia (AML) is associated with dismal outcomes. We evaluated the impact of MK+ in AML (MK+AML, N=240) and in myelodysplastic syndrome (MK+MDS, N=221) on hematopoietic cell transplantation (HCT) outcomes compared to other cytogenetically defined groups (AML, N=3,360; MDS, N=1,373) as reported to the Center for International Blood and Marrow Transplant Research (CIBMTR) from 1998 to 2011. MK+AML was associated with higher disease relapse (hazard ratio [HR] 1.98, p<0.01), similar transplant related mortality (TRM, HR 1.01, p=0.9) and worse survival (HR 1.67, p<0.01) compared to other cytogenetically defined AML. Among patients with MDS, MK+MDS was associated with higher disease relapse (HR 2.39, p<0.01), higher TRM (HR 1.80, p<0.01) and worse survival (HR 2.02, p<0.01). Subset analyses comparing chromosome 7 abnormalities (del7/7q) with or without MK+ demonstrated higher mortality for MK+ disease in for both AML (HR 1.72, p<0.01) and MDS (HR1.79, p<0.01). The strong negative impact of MK+ in myeloid malignancies was observed in all age groups and using either myeloablative or reduced intensity conditioning regimens. Alternative approaches to mitigate disease relapse in this population are needed. PMID:26327629

  14. New karyotypes of Atlantic tree rats, genus Phyllomys (Rodentia: Echimyidae).

    PubMed

    Araújo, Naiara Pereira; Loss, Ana Carolina; Cordeiro-Junior, Dirceu A; da Silva, Kátia Regina; Leite, Yuri L R; Svartman, Marta

    2014-01-01

    Phyllomys (Echimyidae, Rodentia) is a genus of Neotropical rodents with available cytogenetic data restricted to six out of 13 species, mainly based on simple staining methods, without detailed analyses. In this work, we present new karyotypes for Phyllomys lamarum (diploid number 2n = 56, fundamental number or number of autosomal arms FN = 102) and Phyllomys sp. (2n = 74, FN = 140) from the state of Minas Gerais, southeastern Brazil. We provide the first GTG- and CBG-banding patterns, silver-staining of the nucleolar organizer regions (Ag-NORs), and fluorescence in situ hybridization (FISH) with telomeric and 45S rDNA probes of Phyllomys. In addition to examining their chromosomes and phenotypic characters, we sequenced mitochondrial DNA from the specimens analyzed to confirm their taxonomic identification. The comparison of the distinctive chromosome complements of our specimens with those of other species of Phyllomys already published allowed us to conclude that chromosome data may be very useful for the taxonomy of the genus, as no two species analyzed presented the same diploid and fundamental numbers (2n and FN).

  15. Karyotyping and analysis of GNAS locus in intramuscular myxomas.

    PubMed

    Panagopoulos, Ioannis; Gorunova, Ludmila; Lobmaier, Ingvild; Bjerkehagen, Bodil; Heim, Sverre

    2017-03-28

    Intramuscular myxoma is a benign soft tissue tumor about which very limited genetic information exists. We studied 68 intramuscular myxomas by means of chromosome banding analysis finding abnormal karyotypes in 21 of them. The most clearly nonrandom involvement was of chromosome 8 which was found gained in seven tumors (+8 was the sole change in five myxomas) and structurally rearranged in another two. Since mutation of the gene GNAS (20q13) has been implicated in the pathogenesis of both solitary and hereditary multiple myxomas, we assessed the transcription and mutation status of this gene in five tumors from which we had suitable RNA. All five intramuscular myxomas expressed biallelic transcripts. The mutated GNAS allele found in one tumor was also biallelically transcribed. In none of the five myxomas were maternally expressed transcripts detected. Collectively, the data suggest that intramuscular myxomas have acquired genetic abnormalities that often include chromosome 8 changes but may also involve alterations of GNAS. To what extent these aberrations are pathogenetically important, remains uncertain.

  16. Karyotyping and analysis of GNAS locus in intramuscular myxomas

    PubMed Central

    Panagopoulos, Ioannis; Gorunova, Ludmila; Lobmaier, Ingvild; Bjerkehagen, Bodil; Heim, Sverre

    2017-01-01

    Intramuscular myxoma is a benign soft tissue tumor about which very limited genetic information exists. We studied 68 intramuscular myxomas by means of chromosome banding analysis finding abnormal karyotypes in 21 of them. The most clearly nonrandom involvement was of chromosome 8 which was found gained in seven tumors (+8 was the sole change in five myxomas) and structurally rearranged in another two. Since mutation of the gene GNAS (20q13) has been implicated in the pathogenesis of both solitary and hereditary multiple myxomas, we assessed the transcription and mutation status of this gene in five tumors from which we had suitable RNA. All five intramuscular myxomas expressed biallelic transcripts. The mutated GNAS allele found in one tumor was also biallelically transcribed. In none of the five myxomas were maternally expressed transcripts detected. Collectively, the data suggest that intramuscular myxomas have acquired genetic abnormalities that often include chromosome 8 changes but may also involve alterations of GNAS. To what extent these aberrations are pathogenetically important, remains uncertain. PMID:28160572

  17. Centromere strength provides the cell biological basis for meiotic drive and karyotype evolution in mice.

    PubMed

    Chmátal, Lukáš; Gabriel, Sofia I; Mitsainas, George P; Martínez-Vargas, Jessica; Ventura, Jacint; Searle, Jeremy B; Schultz, Richard M; Lampson, Michael A

    2014-10-06

    Mammalian karyotypes (number and structure of chromosomes) can vary dramatically over short evolutionary time frames. There are examples of massive karyotype conversion, from mostly telocentric (centromere terminal) to mostly metacentric (centromere internal), in 10(2)-10(5) years. These changes typically reflect rapid fixation of Robertsonian (Rb) fusions, a common chromosomal rearrangement that joins two telocentric chromosomes at their centromeres to create one metacentric. Fixation of Rb fusions can be explained by meiotic drive: biased chromosome segregation during female meiosis in violation of Mendel's first law. However, there is no mechanistic explanation of why fusions would preferentially segregate to the egg in some populations, leading to fixation and karyotype change, while other populations preferentially eliminate the fusions and maintain a telocentric karyotype. Here we show, using both laboratory models and wild mice, that differences in centromere strength predict the direction of drive. Stronger centromeres, manifested by increased kinetochore protein levels and altered interactions with spindle microtubules, are preferentially retained in the egg. We find that fusions preferentially segregate to the polar body in laboratory mouse strains when the fusion centromeres are weaker than those of telocentrics. Conversely, fusion centromeres are stronger relative to telocentrics in natural house mouse populations that have changed karyotype by accumulating metacentric fusions. Our findings suggest that natural variation in centromere strength explains how the direction of drive can switch between populations. They also provide a cell biological basis of centromere drive and karyotype evolution.

  18. Chromosome painting shows that skunks (Mephitidae, Carnivora) have highly rearranged karyotypes.

    PubMed

    Perelman, P L; Graphodatsky, A S; Dragoo, J W; Serdyukova, N A; Stone, G; Cavagna, P; Menotti, A; Nie, W; O'Brien, P C M; Wang, J; Burkett, S; Yuki, K; Roelke, M E; O'Brien, S J; Yang, F; Stanyon, R

    2008-01-01

    The karyotypic relationships of skunks (Mephitidae) with other major clades of carnivores are not yet established. Here, multi-directional chromosome painting was used to reveal the karyological relationships among skunks and between Mephitidae (skunks) and Procyonidae (raccoons). Representative species from three genera of Mephitidae (Mephitis mephitis, 2n = 50; Mephitis macroura, 2n = 50; Conepatus leuconotus, 2n = 46; Spilogale gracilis, 2n = 60) and one species of Procyonidae (Procyon lotor, 2n = 38) were studied. Chromosomal homology was mapped by hybridization of five sets of whole-chromosome paints derived from stone marten (Martes foina, 2n = 38), cat, skunks (M. mephitis; M. macroura) and human. The karyotype of the raccoon is highly conserved and identical to the hypothetical ancestral musteloid karyotype, suggesting that procyonids have a particular importance for establishing the karyological evolution within the caniforms. Ten fission events and five fusion events are necessary to generate the ancestral skunk karyotype from the ancestral carnivore karyotype. Our results show that Mephitidae joins Canidae and Ursidae as the third family of carnivores that are characterized by a high rate of karyotype evolution. Shared derived chromosomal fusion of stone marten chromosomes 6 and 14 phylogenetically links the American hog-nosed skunk and eastern spotted skunk.

  19. Centromere strength provides the cell biological basis for meiotic drive and karyotype evolution in mice

    PubMed Central

    Chmátal, Lukáš; Gabriel, Sofia I.; Mitsainas, George P.; Martínez-Vargas, Jessica; Ventura, Jacint; Searle, Jeremy B.; Schultz, Richard M.; Lampson, Michael A.

    2014-01-01

    Summary Mammalian karyotypes (number and structure of chromosomes) can vary dramatically over short evolutionary time frames [1–3]. There are examples of massive karyotype conversion, from mostly telocentric (centromere terminal) to mostly metacentric (centromere internal), in 102–105 years [4, 5]. These changes typically reflect rapid fixation of Robertsonian (Rb) fusions, a common chromosomal rearrangement that joins two telocentric chromosomes at their centromeres to create one metacentric [5]. Fixation of Rb fusions can be explained by meiotic drive: biased chromosome segregation during female meiosis in violation of Mendel’s First Law [3, 6, 7]. However, there is no mechanistic explanation of why fusions would preferentially segregate to the egg in some populations, leading to fixation and karyotype change, while other populations preferentially eliminate the fusions and maintain a telocentric karyotype. Here we show, using both laboratory models and wild mice, that differences in centromere strength predict the direction of drive. Stronger centromeres, manifested by increased kinetochore protein levels and altered interactions with spindle microtubules, are preferentially retained in the egg. We find that fusions preferentially segregate to the polar body in laboratory mouse strains when the fusion centromeres are weaker than those of telocentrics. Conversely, fusion centromeres are stronger relative to telocentrics in natural house mouse populations that have changed karyotype by accumulating metacentric fusions. Our findings suggest that natural variation in centromere strength explains how the direction of drive can switch between populations. They also provide a cell biological basis of centromere drive and karyotype evolution. PMID:25242031

  20. A case of ambiguous external genitalia in a Thoroughbred male horse with the 63,XO/64,XY mosaic karyotype.

    PubMed

    Sato, Fumio; Hirota, Keiichi; Tozaki, Teruaki; Ito, Katsumi; Dhakal, Pramod; Taya, Kazuyoshi; Endo, Yoshiro; Murase, Harutaka; Nambo, Yasuo

    2012-10-01

    A Thoroughbred colt with ambiguous external genitalia was presented for clinical and histological examinations. The colt had a short penis that faced backward between his hind limbs. The measurements of luteinizing hormone, follicle stimulating hormone, testosterone and ir-inhibin showed a tendency to increase gradually from April. Both the sex-determining region of the Y chromosome and amelogenin gene fragments were detected by the PCR method. A cytogenetic analysis revealed the 63,XO/64,XY mosaic karyotype (ratio 83:17). In autopsy, immature symmetrical subcutaneous testes were found in the inguinal regions. The testes and other accessory sex organs were histologically normal. These results add to our knowledge of chromosomal abnormality and information concerning disorders of sex development in the horse.

  1. [Value of karyotype in psychiatry: the 3-D syndrome (dysthymia-dysgonosomia-deterioration). First clinical, cytogenetic, anatomical correlation].

    PubMed

    Pascalis, J G; Bajolle, F; Teyssier, J R; Pluot, G

    1990-12-01

    The systematic study of the karyotype in Adult Psychiatry reveals among the group of periodical psychoses the existence of the 3-D Syndrome, marked by long clinical cycles, a course towards a dementia, the presence of a X-dysgonosomy with mosaicism, a relative and better clinical response with the use of lithium than with the use of tricyclic antidepressants. These characteristics discriminate the 3-D syndrome from the periodical manic depressive psychosis, which neither includes the course towards a dementia nor does it include until now identified cellular abnormalities. From the anatomical point of view the brain is quasi-normal, when the ultimate phase is a dementia. The 3-D Syndrome seems to be linked with a phenomenon of chromosomal instability. The caryotype takes a part among the usual biological tests in psychiatry.

  2. Small marker X chromosomes lack the X inactivation center: Implications for karyotype/phenotype correlations

    SciTech Connect

    Wolff, D.J.; Brown, C.J.; Schwartz, S.; Willard, H.F. ); Duncan, A.M.V. ); Surti, U. )

    1994-07-01

    The abnormal phenotype and/or mental retardation seen in persons with small marker X (mar(X)) chromsomes has been hypothesized to be due to the loss of the X inactivation center (XIC) at Xq31.2, resulting in two active copies of genes in the pericentromeric region. In order to define precisely the DNA content of mar(X) chromosomes and to correlate phenotype with karyotype, the authors studied small mar(X) chromosomes, using FISH with probes in the juxtacentromeric region. One of the probes was a 40-kb genomic cosmid for the XIST gene, which maps to the smallest interval known to contain the XIC and is though to be involved in X inactivation. The findings reveal that small mar(X) chromosomes do not include the XIC and therefore cannot be subject to X inactivation, supporting the premise that abnormal dosage of expressed genes in the pericentromeric region of the X generates the aberrant phenotype seen in patients with small mar(X) chromosomes. 54 refs., 4 figs., 2 tabs.

  3. Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

    PubMed Central

    Wolff, D. J.; Brown, C. J.; Schwartz, S.; Duncan, A. M.; Surti, U.; Willard, H. F.

    1994-01-01

    The abnormal phenotype and/or mental retardation seen in persons with small marker X (mar(X)) chromosomes has been hypothesized to be due to the loss of the X inactivation center (XIC) at Xq13.2, resulting in two active copies of genes in the pericentromeric region. In order to define precisely the DNA content of mar(X) chromosomes and to correlate phenotype with karyotype, we studied small mar(X) chromosomes, using FISH with probes in the juxtacentromeric region. One of the probes was a 40-kb genomic cosmid for the XIST gene, which maps to the smallest interval known to contain the XIC and is thought to be involved in X inactivation. Our findings reveal that small mar(X) chromosomes do not include the XIC and therefore cannot be subject to X inactivation, supporting the premise that abnormal dosage of expressed genes in the pericentromeric region of the X generates the aberrant phenotype seen in patients with small mar(X) chromosomes. Images Figure 2 Figure 3 Figure 4 PMID:8023855

  4. Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypes.

    PubMed

    Patwardhan, Anil J; Brown, Wendy E; Bender, Bruce G; Linden, Mary G; Eliez, Stephan; Reiss, Allan L

    2002-01-08

    The excess of 47,XXX and 47,XXY karyotypes found in cytogenetic screening studies of individuals with schizophrenia has given support for an increased risk of psychiatric illness among men and women with sex chromosomal aneuploidy (SCA). Mesial temporal lobe structures, including the amygdala and hippocampus, are thought to be associated with abnormalities of mood and behavior in humans and in the neurobiology of schizophrenia. This study focuses on variations in volumes of mesial temporal lobe structures in men and women with SCA. Utilizing an unselected birth cohort of subjects with SCA and high-resolution magnetic resonance imaging (MRI), we investigated the neuroanatomical consequences of a supernumerary X chromosome on the morphology of the amygdala and hippocampus. Regional and total brain volumes were measured in 10 subjects with 47,XXY, 10 subjects with 47,XXX, and 20 euploid controls. Amygdala volumes were significantly reduced in men with 47,XXY, compared to control men, while the decrease in women with 47,XXX was not as pronounced. Hippocampus volumes were preserved in both groups, compared to same-gender controls. Longitudinal studies of SCA individuals have shown an increased incidence of mild psychopathology and behavioral dysfunction in men with 47,XXY and more overt psychiatric illness in women with 47,XXX, compared to control populations. The alteration in amygdala volumes in individuals with a supernumerary X chromosome may provide a neuroanatomic basis for these findings. Copyright 2001 Wiley-Liss, Inc.

  5. Karyotypic evolution in the Galliformes: an examination of the process of karyotypic evolution by comparison of the molecular cytogenetic findings with the molecular phylogeny.

    PubMed

    Shibusawa, M; Nishibori, M; Nishida-Umehara, C; Tsudzuki, M; Masabanda, J; Griffin, D K; Matsuda, Y

    2004-01-01

    To define the process of karyotypic evolution in the Galliformes on a molecular basis, we conducted genome-wide comparative chromosome painting for eight species, i.e. silver pheasant (Lophura nycthemera), Lady Amherst's pheasant (Chrysolophus amherstiae), ring-necked pheasant (Phasianus colchicus), turkey (Meleagris gallopavo), Western capercaillie (Tetrao urogallus), Chinese bamboo-partridge (Bambusicola thoracica) and common peafowl (Pavo cristatus) of the Phasianidae, and plain chachalaca (Ortalis vetula) of the Cracidae, with chicken DNA probes of chromosomes 1-9 and Z. Including our previous data from five other species, chicken (Gallus gallus), Japanese quail (Coturnix japonica) and blue-breasted quail (Coturnix chinensis) of the Phasianidae, guinea fowl (Numida meleagris) of the Numididae and California quail (Callipepla californica) of the Odontophoridae, we represented the evolutionary changes of karyotypes in the 13 species of the Galliformes. In addition, we compared the cytogenetic data with the molecular phylogeny of the 13 species constructed with the nucleotide sequences of the mitochondrial cytochrome b gene, and discussed the process of karyotypic evolution in the Galliformes. Comparative chromosome painting confirmed the previous data on chromosome rearrangements obtained by G-banding analysis, and identified several novel chromosome rearrangements. The process of the evolutionary changes of macrochromosomes in the 13 species was in good accordance with the molecular phylogeny, and the ancestral karyotype of the Galliformes is represented.

  6. SU-D-16A-01: A Novel Method to Estimate Normal Tissue Dose for Radiotherapy Patients to Support Epidemiologic Studies of Second Cancer Risk

    SciTech Connect

    Lee, C; Jung, J; Pelletier, C; Kim, J; Lee, C

    2014-06-01

    Purpose: Patient cohort of second cancer study often involves radiotherapy patients with no radiological images available: We developed methods to construct a realistic surrogate anatomy by using computational human phantoms. We tested this phantom images both in a commercial treatment planning system (Eclipse) and a custom Monte Carlo (MC) transport code. Methods: We used a reference adult male phantom defined by International Commission on Radiological Protection (ICRP). The hybrid phantom which was originally developed in Non-Uniform Rational B-Spline (NURBS) and polygon mesh format was converted into more common medical imaging format. Electron density was calculated from the material composition of the organs and tissues and then converted into DICOM format. The DICOM images were imported into the Eclipse system for treatment planning, and then the resulting DICOM-RT files were imported into the MC code for MC-based dose calculation. Normal tissue doses were calculation in Eclipse and MC code for an illustrative prostate treatment case and compared to each other. Results: DICOM images were generated from the adult male reference phantom. Densities and volumes of selected organs between the original phantom and ones represented within Eclipse showed good agreements, less than 0.6%. Mean dose from Eclipse and MC code match less than 7%, whereas maximum and minimum doses were different up to 45%. Conclusion: The methods established in this study will be useful for the reconstruction of organ dose to support epidemiological studies of second cancer in cancer survivors treated by radiotherapy. We also work on implementing body size-dependent computational phantoms to better represent patient's anatomy when the height and weight of patients are available.

  7. A microcosm study to support aquatic risk assessment of nickel: Community-level effects and comparison with bioavailability-normalized species sensitivity distributions.

    PubMed

    Hommen, Udo; Knopf, Burkhard; Rüdel, Heinz; Schäfers, Christoph; De Schamphelaere, Karel; Schlekat, Chris; Garman, Emily Rogevich

    2016-05-01

    The aquatic risk assessment for nickel (Ni) in the European Union is based on chronic species sensitivity distributions and the use of bioavailability models. To test whether a bioavailability-based safe threshold of Ni (the hazardous concentration for 5% of species [HC5]) is protective for aquatic communities, microcosms were exposed to 5 stable Ni treatments (6-96 μg/L) and a control for 4 mo to assess bioaccumulation and effects on phytoplankton, periphyton, zooplankton, and snails. Concentrations of Ni in the periphyton, macrophytes, and snails measured at the end of the exposure period increased in a dose-dependent manner but did not indicate biomagnification. Abundance of phytoplankton and snails decreased in 48 μg Ni/L and 96 μg Ni/L treatments, which may have indirectly affected the abundance of zooplankton and periphyton. Exposure up to 24 μg Ni/L had no adverse effects on algae and zooplankton, whereas the rate of population decline of the snails at 24 μg Ni/L was significantly higher than in the controls. Therefore, the study-specific overall no-observed-adverse-effect concentration (NOAEC) is 12 μg Ni/L. This NOAEC is approximately twice the HC5 derived from a chronic species sensitivity distribution considering the specific water chemistry of the microcosm by means of bioavailability models. Thus, the present study provides support to the protectiveness of the bioavailability-normalized HC5 for freshwater communities. © 2015 The Authors. Environmental Toxicology and Chemistry Published by Wiley Periodicals, Inc. on behalf of SETAC.

  8. Guidelines and training initiatives that support communication in cross-cultural primary-care settings: appraising their implementability using Normalization Process Theory.

    PubMed

    de Brún, Tomas; de-Brún, Mary O'Reilly; van Weel-Baumgarten, Evelyn; van Weel, Chris; Dowrick, Christopher; Lionis, Christos; O'Donnell, Catherine A; Burns, Nicola; Mair, Frances S; Saridaki, Aristoula; Papadakaki, Maria; Princz, Christine; van den Muijsenbergh, Maria; MacFarlane, Anne

    2015-08-01

    Guidelines and training initiatives (G/TIs) available to support communication in cross-cultural primary health care consultations are not routinely used. We need to understand more about levers and barriers to their implementation and identify G/TIs likely to be successfully implemented in practice. To report a mapping process used to identify G/TIs and to prospectively appraise their implementability, using Normalization Process Theory (NPT). RESTORE is a 4-year EU FP-7 project. We used purposeful and network sampling to identify experts in statutory and non-statutory agencies across Austria, England, Greece, Ireland, Scotland and the Netherlands who recommended G/TI data from the grey literature. In addition, a peer review of literature was conducted in each country. Resulting data were collated using a standardized Protocol Mapping Document. G/TIs were identified for inclusion by (i) initial elimination of incomplete G/TI material; (ii) application of filtering criteria; and (iii) application of NPT. 20 G/TIs met selection criteria: 8 guidelines and 12 training initiatives. Most G/TIs were identified in the Netherlands (n = 7), followed by Ireland (n = 6) and England (n = 5). Fewer were identified in Scotland (n = 2), and none in Greece or Austria. The majority (n = 13) were generated without the inclusion of migrant service users. All 20 were prospectively appraised for potential implementability by applying NPT. NPT is useful as a means of prospectively testing G/TIs for implementability. Results indicate a need to initiate meaningful engagement of migrants in the development of G/TIs. A European-based professional standard for development and assessment of cross-cultural communication resources is advised. © The Author 2015. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  9. Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

    PubMed Central

    2012-01-01

    Spectral karyotyping is a diagnostic tool that allows visualization of chromosomes in different colors using the FISH technology and a spectral imaging system. To assess the value of spectral karyotyping analysis for identifying constitutional supernumerary marker chromosomes or derivative chromosomes at a national reference laboratory, we reviewed the results of 179 consecutive clinical samples (31 prenatal and 148 postnatal) submitted for spectral karyotyping. Over 90% of the cases were requested to identify either small supernumerary marker chromosomes (sSMCs) or chromosomal exchange material detected by G-banded chromosome analysis. We also reviewed clinical indications of those cases with marker chromosomes in which chromosomal origin was identified by spectral karyotyping. Our results showed that spectral karyotyping identified the chromosomal origin of marker chromosomes or the source of derivative chromosomal material in 158 (88%) of the 179 clinical cases; the identification rate was slightly higher for postnatal (89%) compared to prenatal (84%) cases. Cases in which the origin could not be identified had either a small marker chromosome present at a very low level of mosaicism (< 10%), or contained very little euchromatic material. Supplemental FISH analysis confirmed the spectral karyotyping results in all 158 cases. Clinical indications for prenatal cases were mainly for marker identification after amniocentesis. For postnatal cases, the primary indications were developmental delay and multiple congenital anomalies (MCA). The most frequently encountered markers were of chromosome 15 origin for satellited chromosomes, and chromosomes 2 and 16 for non-satellited chromosomes. We were able to obtain pertinent clinical information for 47% (41/88) of cases with an identified abnormal chromosome. We conclude that spectral karyotyping is sufficiently reliable for use and provides a valuable diagnostic tool for establishing the origin of supernumerary marker

  10. Karyomorphology and karyotype asymmetry in the South American Caesalpinia species (Leguminosae and Caesalpinioideae).

    PubMed

    Rodrigues, P S; Souza, M M; Corrêa, R X

    2014-10-20

    With the purpose of addressing the pattern of karyotype evolution in Caesalpinia species, chromosome morphology was characterized in five species from Brazil, and karyotypic asymmetry was analyzed in 14 species from South America. All accessions had the chromosome number 2n = 24, which was first described here for Caesalpinia laxiflora Tul. and Cenostigma macrophyllum Tul. The karyotype formula of C. laxiflora, Caesalpinia pyramidalis Tul., and C. macrophyllum was 12 m. The formula varies amongst the populations of Caesalpinia bracteosa Tul. (11 m + 1 sm) and Caesalpinia echinata Lam. (10 m + 2 sm and 9 m + 3 sm). The intra- and interspecific variations in chromosome length were significant (analysis of variance, P < 0.05). Analyzing the asymmetry index (AI), revealed that Caesalpinia calycina Benth. had the most asymmetrical karyotype (AI = 10.52), whereas Caesalpinia paraguarienses (D. Parodi) Burkat. and Caesalpinia gilliesii (Hook.) Benth. had the most symmetrical karyotypes (AI = 0.91 and 1.10, respectively). There has been a trend to lower AI values for the Caesalpinia s.l. species assigned in Libidibia and intermediate values for those combined into Poincianella. On the other hand, the karyotypes of Erythrostemon species had extremely different AI values. This study confirms the existence of karyotype variability in Caesalpinia s.l. while revealing a possible uniformity of this trait in some of the new genera that are being divided from Caesalpinia s.l. More broadly, the 2n = 24 chromosome number is conserved. Metacentric chromosomes and low AI values predominate among Caesalpinia s.l. and Cenostigma.

  11. Distinct karyotypes in two offspring of a man with jumping translocation karyotype 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10].

    PubMed

    Hu, Hua; Yao, Hong; Dong, Yanlin; Long, Yang; Xu, Liang; Hu, Bing; Xu, Gang; Liang, Zhiqing

    2014-08-01

    We examined a man and his daughter, who both had different jumping translocation karyotypes. The man's wife was pregnant and had been referred for prenatal diagnosis of the fetus. The karyotype of the husband's peripheral blood lymphocytes was 45,XY,der(16)t(16;22)(q24;q11.2), -22 [59]/45,XY,der(1)t(1;22)(p36;q11.2), -22 [11]/45,XY,der(22)t(22;22)(p13;q11.2), -22 [10]. The karyotype of the daughter's peripheral blood lymphocytes was 45,XX,der(16)t(16;22)(q24;q11.2), -22 [45]/45,XX,der(9)t(9;22)(q34;q11.2), -22 [30]/45,XX,der(5)t(5;22)(q35;q11.2), -22 [25]. The wife and the fetus both had a normal karyotype. To the best of our knowledge, the present familial transmitted jumping translocation has not been previously described and the jumping translocation in the husband and daughter did not cause any phenotypic abnormalities.

  12. Mixed gonadal dysgenesis with Turner`s phenotype and mosaic karyotype

    SciTech Connect

    Tarim, O.; Lieber, E. |

    1994-09-01

    A 14 8/12-year-old white female patient was evaluated for short stature and amenorrhea. The past and family history were unremarkable. The physical examination revealed a short girl (131.4 cm; height age: 9) with a weight of 39.5kg (weight age: 11-6/12). The blood pressure was in the normal range in all four extremities and the peripheral pulses were positive. She had stigmata of Turner`s syndrome including short neck and slight webbing, cubitus valgus, and shield chest. There was no heart murmur. The only pubertal sign was pubic hair of Tanner stage II. The chromosome study showed a mosaic pattern. A total of 67 cultured lymphocytes from peripheral blood were analyzed which revealed 13 cells with 45,XO; 14 with 46,XY,r(Y); 39 with 46,XY. The patient had a normal vagina and hypoplastic uterus by sonogram. The diagnosis of mixed gonadal dysgenesis was confirmed by exploratory laparotomy and bilateral gonadectomy. The histologic examination of the gonads showed a testicle on the left and a streak ovary on right. The karyotype of the testicular tissue revealed 45,XO in 32 out of 40 and 46,XY in the remaining 8 cells. Pre-operative hormonal evaluation showed elevated gonadotropin levels of FSH 73.5 and LH 12.5 mIU/ml, low estradiol level of 5 pg/ml, normal testosterone level of 18 and DHEA-S of 181 mcg/dl, and normal thyroid function test with T4 of 6 mcg/dl and TSH of 4.2 mIU/ml. Her bone age was 12 years. The patient was also found to have subnormal growth hormone (GH) secretion by overnight GH study (1.55 ng/ml), clonidine stimulation test (7.3ng/ml), and insulin stimulation test (9.2 ng/ml). She responded well to human synthetic GH treatment with a growth velocity of 11.5 cm in two years. Replacement of sex hormones will be initiated after the completion of growth.

  13. Single-nucleotide polymorphism array karyotyping in clinical practice: where, when, and how?

    PubMed

    Sato-Otsubo, Aiko; Sanada, Masashi; Ogawa, Seishi

    2012-02-01

    Single-nucleotide polymorphism array (SNP-A) karyotyping is a new technology that has enabled genome-wide detection of genetic lesions in human cancers, including hematopoietic neoplasms. Taking advantage of very large numbers of allele-specific probes synthesized on microarrays at high density, copy number alterations as well as allelic imbalances can be sensitively detected in a genome-wide manner at unprecedented resolutions. Most importantly, SNP-A karyotyping represents the only platform currently available for genome-scale detection of copy neutral loss of heterozygosity (CN-LOH) or uniparental disomy (UPD), which is widely observed in cancer genomes. Although not applicable to detection of balanced translocations, which are commonly found in hematopoietic malignancies, SNP-A karyotyping technology complements and even outperforms conventional metaphase karyotyping, potentially allowing for more accurate genetic diagnosis of hematopoietic neoplasms in clinical practice. Here, we review the current status of SNP-A karyotyping and its application to hematopoietic neoplasms. Copyright © 2012 Elsevier Inc. All rights reserved.

  14. Routine conventional karyotyping of lymphoma staging bone marrow samples does not contribute clinically relevant information.

    PubMed

    Nardi, Valentina; Pulluqi, Olja; Abramson, Jeremy S; Dal Cin, Paola; Hasserjian, Robert P

    2015-06-01

    Bone marrow (BM) evaluation is an important part of lymphoma staging, which guides patient management. Although positive staging marrow is defined as morphologically identifiable disease, such samples often also include flow cytometric analysis and conventional karyotyping. Cytogenetic analysis is a labor-intensive and costly procedure and its utility in this setting is uncertain. We retrospectively reviewed pathological reports of 526 staging marrow specimens in which conventional karyotyping had been performed. All samples originated from a single institution from patients with previously untreated Hodgkin and non-Hodgkin lymphomas presenting in an extramedullary site. Cytogenetic analysis revealed clonal abnormalities in only eight marrow samples (1.5%), all of which were positive for lymphoma by morphologic evaluation. Flow cytometry showed a small clonal lymphoid population in three of the 443 morphologically negative marrow samples (0.7%). Conventional karyotyping is rarely positive in lymphoma staging marrow samples and, in our cohort, the BM karyotype did not contribute clinically relevant information in the vast majority of cases. Our findings suggest that karyotyping should not be performed routinely on BM samples taken to stage previously diagnosed extramedullary lymphomas unless there is pathological evidence of BM involvement by lymphoma. © 2015 Wiley Periodicals, Inc.

  15. Spectral karyotyping and chromosome banding studies of primary breast carcinomas and their lymph node metastases.

    PubMed

    Adeyinka, A; Kytola, S; Mertens, F; Pandis, N; Larsson, C

    2000-03-01

    Three primary breast tumors and their lymph node metastases were characterized by G-banding, spectral karyotyping (SKY), and fluorescence in situ hybridization (FISH). In each case, the karyotypic abnormalities detected were similar in the primary tumor and its matched metastasis. Two of the pairs had near-diploid karyotypes with three to four chromosomal aberrations, whereas the third pair had a near-pentaploid chromosome content and many marker chromosomes in the primary tumor and a near-tetraploid chromosome number with almost the same marker chromosomes in the metastasis. SKY and FISH confirmed the karyotypic similarities between the primary tumors and their metastases and, in addition, improved the identification and characterization of marker chromosomes. One of the tumor pairs with near-diploid karyotypes had gain of 8q, 16q, and 17q, whereas the other had gain of 1q and chromosome 8 material in the form of ring chromosomes. The third pair had more complex chromosomal translocations and numerical changes resulting in net gain of material from chromosomes X, 1, 2, 6, 7, 14, 16, 19, and 20, and chromosome arms 8q and 11q, as well as net loss of material from chromosomes 3, 13, 18, 21, and 22. The present study underscores the need to combine conventional chromosome banding and molecular cytogenetic techniques in the cytogenetic analysis of solid tumors.

  16. 45,X/46,XX karyotype mitigates the aberrant craniofacial morphology in Turner syndrome.

    PubMed

    Rizell, Sara; Barrenäs, Marie-Louise; Andlin-Sobocki, Anna; Stecksén-Blicks, Christina; Kjellberg, Heidrun

    2013-08-01

    The aim of this project was to study the impact on craniofacial morphology from Turner syndrome (TS) karyotype, number of intact X chromosomal p-arms, and age as well as to compare craniofacial morphology in TS with healthy females. Lateral radiographs from 108 females with TS, ranging from 5.4 to 61.6 years, were analysed. The TS females were divided into four karyotype groups: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other, as well as according to the number of intact X chromosomal p-arms. The karyotype was found to have an impact on craniofacial growth, where the mosaic group, with presence of 46,XX cell lines, seems to exhibit less mandibular retrognathism as well as fewer statistically significant differences compared to the reference group than the 45,X karyotype. Isochromosomes had more significant differences versus the reference group than 45,X/46,XX but fewer than 45,X. To our knowledge, this is the first time the 45,X/46,XX and isochromosome karyotypes are divided into separate groups studying craniofacial morphology. Impact from p-arm was found on both maxillary and mandibular length. Compared to healthy females, TS expressed a shorter posterior and flattened cranial base, retrognathic, short and posteriorly rotated maxilla and mandible, increased height of ramus, and relatively shorter posterior facial height. The impact of age was found mainly on mandibular morphology since mandibular retrognathism and length were more discrepant in older TS females than younger.

  17. Outcome of experimental rat vaginitis by Candida albicans isolates with different karyotypes.

    PubMed

    Tavanti, Arianna; Campa, Daniele; Arancia, Silvia; Hensgens, Lambert A M; de Bernardis, Flavia; Senesi, Sonia

    2010-01-01

    Candida albicans isolates with different genomic background, designed as b and c karyotypes, have been previously shown to differentially modulate their response to macrophage candidacidal activity. While b-type isolates were susceptible to intracellular killing, strains with c karyotype survived upon internalization and were able to replicate inside macrophages. Furthermore, it was also shown that c type strains escape microglial cell mediated growth inhibition, suggesting that these strains form a more virulent cluster. In this report, the pathogenicity exerted by C. albicans isolates with b and c karyotypes was analyzed in vivo using a model of experimental rat vaginitis. Although both types induced infection, c-type-infected animals suffered from more persistent vaginitis, confirming the higher virulence potential the c karyotype exerted in vivo. The analysis of fungal cells recovered from vaginal fluids of infected animals indicated that c-type was more prone to undergo morphogenesis and to express SAP2 than b-type; these different traits may account for the differences observed in the outcome of experimental rodent vaginitis induced by the two C. albicans karyotypes. Copyright 2010 Elsevier Ltd. All rights reserved.

  18. Standard karyotyping concentrates microfilaria and can be a valid concentrating technique for their detection.

    PubMed

    Kerketta, Lily S; Rao, Vundinti Babu; Ghosh, Kanjaksha

    2012-10-01

    During karyotype preparation from the bone marrow aspirates of 209 haematological malignancy cases, microfilaria were detected in four samples, whereas routine marrow and peripheral blood smears of these four cases did not show any parasite. The patients were recalled, and their peripheral blood was processed by karyotyping and standard concentration techniques. Karyotype preparation from peripheral blood was performed with and without addition of colchicine. When the blood was processed for karyotyping with colchicine, microfilaria were detected in the peripheral blood of all four patients. In samples without added colchicine, no parasite was observed. The same samples were processed by Knott's concentration technique, which showed microfilariae only in one of the four patients. Routine thick and thin smears of these patients showed no parasite. It seems that the standard karyotype preparation technique with colchicine concentrates the microfilariae in samples where parasite load is small and not demonstrable with standard techniques. Serological tests are available for W. bancrofti and costly, whereas no regular serodiagnosis is available for B. malayi. In a country like India, both parasites are endemic and patients are treated on clinical suspicion when parasitaemia could be low. Low parasitaemia is common because of repeated infection and partial immunity. In such circumstances, a cost-effective concentration technique like this may be useful. © 2012 Blackwell Publishing Ltd.

  19. Cytogenetics meets phylogenetics: a review of karyotype evolution in diprotodontian marsupials.

    PubMed

    Westerman, Michael; Meredith, Robert W; Springer, Mark S

    2010-01-01

    We have used a combined approach of phylogenetics and cytogenetics to describe karyotype evolution in Diprotodontia. Molecular relationships of diprotodontian marsupials have been clarified using a concatenation of 5 nuclear gene sequences from multiple exemplars of all extant genera. Our well-resolved phylogenetic tree has been used as a basis for understanding chromosome evolution both within this Order, as well as in marsupials in general. It is clear that the ancestral marsupial karyotype comprised 14 relatively large chromosomes of the form retained relatively unchanged in caenolestids, microbiotherians, peramelemorphians, vombatids, and pygmy possums. Four pericentric inversions occurred in the ancestral dasyuromorphian (chromosomes 1, 2, 4, and 6) and a different 4 in the ancestral didelphimorphian (chromosomes 1, 3, 5 and 6). Within Diprotodontia, although the ancestral marsupial karyotype has been retained in some families such as the extant wombats and pygmy possums, there have been major karytoypic repatternings early in the evolution of others. Chromosome rearrangements in diprotodontia include centric fissions and fusions, translocations, and centromere shifts. Karyotypic changes are discussed in the context of current hypotheses concerning centromeres, chromosomal fragile sites, and mobile elements in marsupials and the probable repeated involvement of these elements in karyotypic restructuring.

  20. Karyotype analysis in large sample cases from Shenyang Women's and Children's hospital: a study of 16,294 male infertility patients.

    PubMed

    Gao, M; Pang, H; Zhao, Y-H; Hua, J; Tong, D; Zhao, H; Liu, Y; Zhao, Y; Zhang, M; Yan, X-J; Chen, H; Ma, H-P; Jin, T-Y; Dong, S-L

    2017-05-01

    To explore that it is necessary to routinely detect chromosomes in infertile patients, we investigated peripheral blood lymphocyte karyotype in 16,294 male infertile patients in the north-east of China and analysed the incidence and type of chromosomal anomaly and polymorphism. G-banding karyotype analysis of peripheral blood lymphocytes was performed in 16,294 cases. Semen analysis was performed three times in all the men. PCR and FISH confirmed the presence of the SRY gene. The rate of chromosomal anomaly in the 16,294 male infertile patients was 4.15% (677/16,294). The rates of chromosomal anomaly were 0.24% in normal semen group, 12.6% in light oligoasthenospermia group, 4.7% in moderate-to-severe oligoasthenospermia group and 9.59% in azoospermia group. There are two male infertile patients with 45,X chromosome karyotype. One X male patient had confirmed the presence of the SRY gene and FISH analysis demonstrated its location on the p arm of chromosome 13. The other X male patient had not found SRY gene in its whole-genome DNA. Meanwhile, sperm motility is slightly oligo-asthenozoospermic at the age of 35-39 and nearly azoospermic at the age of 40-45. As the rates of chromosomal anomaly are 0.24% and 12.6% even in normal semen group and light oligoasthenospermia group, the rates of chromosomal polymorphism are 5.36% and 25.51% in normal semen group and light oligoasthenospermia group, respectively; it is necessary to explore peripheral blood lymphocyte karyotype in all infertile couples. We mentioned that Y, 1, 2, 9 and 12 chromosomes were quite important about male infertility. These findings demonstrate that autosomal retention of SRY can be submicroscopic and emphasise the importance of PCR and FISH in the genetic workup of the monosomic X male. At the same time, it suggested that male infertility might be related to meiotic disturbances with spermatogenetic arrest in Y-autosome translocations, which could result in infertility by reduction of sperm

  1. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases

    SciTech Connect

    Hsu, L.Y.F.

    1994-11-01

    Over 600 cases with Y aneuploidy (other than non-mosaic 47,XYY) were reviewed for phenotype/karyotype correlations. Except for 93 prenatally diagnosed cases of mosaicism, all other cases were ascertained postnatally. Special emphasis was placed on structural abnormalities. It is clear that in the absence of a 45,X cell line, the presence of an entire Yp or a region of it including SRY would lead to a male phenotype in an individual with a Y aneuploidy, whereas the lack of Yp invariably leads to a female phenotype with typical or atypical Ullrich-Turner syndrome (UTS). Once there is a 45,X cell line, regardless of whether there is a Yp, Yq, or both Yp and Yq, or even a free Y chromosome in other cell lines, there is an increased chance for that individual to be a phenotypic female with UTS manifestations or to have ambiguous external genitalia. This review once again shows a major difference in reported phenotypes between postnatally and prenatally diagnosed cases of 45,X/46,XY, 45,X/47,XYY, and 45,X/46,XY/47,XYY mosaicism. It appears that ascertainment bias can explain the fact that all known patients with postnatal diagnosis are phenotypically abnormal, while over 90% of prenatally diagnosed cases are reported to have a normal male phenotype. Further elucidation of major Y genes and their clinical significance can be expected in the rapidly expanding gene mapping projects. More, consequently better, phenotype/karyotype correlations can be anticipated at both the cytogenetic and the molecular level. 486 refs., 5 figs., 10 tabs.

  2. Stratification of de novo adult acute myelogenous leukemia with adverse-risk karyotype: can we overcome the worse prognosis of adverse-risk group acute myelogenous leukemia with hematopoietic stem cell transplantation?

    PubMed

    Yoon, Jae-Ho; Kim, Hee-Je; Shin, Seung-Hwan; Lee, Sung-Eun; Cho, Byung-Sik; Eom, Ki-Seong; Kim, Yoo-Jin; Lee, Seok; Min, Chang-Ki; Cho, Seok-Goo; Kim, Dong-Wook; Lee, Jong-Wook; Min, Woo-Sung; Park, Chong-Won

    2014-01-01

    Karyotype is a powerful prognostic factor for complete remission (CR) and overall survival (OS) in acute myelogenous leukemia (AML). Adverse-risk karyotype AML is now treated with intensive chemotherapy followed by allogeneic hematopoietic stem cell transplantation (allo-HSCT) to overcome relapse. We attempted to stratify patients with this disease using a combination of known factors. We evaluated clinical correlates in 211 adults with AML and adverse-risk karyotypes. We divided the patients into several subgroups based on the number of chromosomal aberrations (NCAs), normal karyotype (NK) mosaicism, and monosomal karyotype (MK) status. CR rates and survival outcomes were compared among the subgroups, and the relapse rate was calculated in the allo-HSCT subgroup. The cutoff of NCA ≥ 5 showed the worst OS (P < .001) compared with NCA ≥ 3 or NCA ≥ 4 even after allo-HSCT. NK mosaicism significantly improved OS in both the NCA <5 (P = .024) and NCA ≥ 5 (P = .030) subgroups, but after allo-HSCT, it showed a favorable effect only in the NCA <5 subgroup. MK showed worse OS (P = .041), but there was no significantly worse effect after allo-HSCT compared with non-MK. Finally, we stratified patients into 4 subgroups, NCA ≥ 5 and NCA <5 with and without NK mosaicism. The most favorable OS and lower relapse rate after allo-HSCT were achieved by the NCA <5 with NK mosaicism subgroup, and the NCA ≥ 5 without NK mosaicism subgroup showed the worst prognosis in both entire group and allo-HSCT subgroup analysis. This study reveals that the combination of NCA and NK mosaicism may predict survival outcomes accurately, and suggests that novel treatment strategies for highly adverse-risk group AML should be tailored in the future.

  3. Karyotypic and molecular polymorphisms in Ctenomys torquatus (Rodentia: Ctenomyidae): taxonomic considerations.

    PubMed

    Fernandes, Fabiano A; Gonçalves, Gislene L; Ximenes, Simone S F; de Freitas, Thales R O

    2009-07-01

    The rodent genus Ctenomys (tuco-tucos) comprises more than 60 described species, and shows extraordinary inter- and intraspecific karyotypic variation. The most widely distributed species of Ctenomys in Brazil is C. torquatus. Although several cytogenetic studies have been done, the karyotypic variability of this species is still poorly known. In this paper we report two new diploid numbers for C. torquatus: 2n = 40 and 2n = 42, both showing AN = 72. The new distribution limits of C. torquatus here reported include localities in the southern, central and western parts of Rio Grande do Sul (RS) State in southern Brazil. The phylogenetic relationship between C. torquatus from Alegrete, RS, and Ctenomys sp. from Corrientes, Argentina, is described by means of mtDNA cytochrome b analysis. Although both entities share similar karyotypes and sperm morphology, these two species are not phylogenetically close.

  4. The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera

    PubMed Central

    Ahola, Virpi; Lehtonen, Rainer; Somervuo, Panu; Salmela, Leena; Koskinen, Patrik; Rastas, Pasi; Välimäki, Niko; Paulin, Lars; Kvist, Jouni; Wahlberg, Niklas; Tanskanen, Jaakko; Hornett, Emily A.; Ferguson, Laura C.; Luo, Shiqi; Cao, Zijuan; de Jong, Maaike A.; Duplouy, Anne; Smolander, Olli-Pekka; Vogel, Heiko; McCoy, Rajiv C.; Qian, Kui; Chong, Wong Swee; Zhang, Qin; Ahmad, Freed; Haukka, Jani K.; Joshi, Aruj; Salojärvi, Jarkko; Wheat, Christopher W.; Grosse-Wilde, Ewald; Hughes, Daniel; Katainen, Riku; Pitkänen, Esa; Ylinen, Johannes; Waterhouse, Robert M.; Turunen, Mikko; Vähärautio, Anna; Ojanen, Sami P.; Schulman, Alan H.; Taipale, Minna; Lawson, Daniel; Ukkonen, Esko; Mäkinen, Veli; Goldsmith, Marian R.; Holm, Liisa; Auvinen, Petri; Frilander, Mikko J.; Hanski, Ilkka

    2014-01-01

    Previous studies have reported that chromosome synteny in Lepidoptera has been well conserved, yet the number of haploid chromosomes varies widely from 5 to 223. Here we report the genome (393 Mb) of the Glanville fritillary butterfly (Melitaea cinxia; Nymphalidae), a widely recognized model species in metapopulation biology and eco-evolutionary research, which has the putative ancestral karyotype of n=31. Using a phylogenetic analyses of Nymphalidae and of other Lepidoptera, combined with orthologue-level comparisons of chromosomes, we conclude that the ancestral lepidopteran karyotype has been n=31 for at least 140 My. We show that fusion chromosomes have retained the ancestral chromosome segments and very few rearrangements have occurred across the fusion sites. The same, shortest ancestral chromosomes have independently participated in fusion events in species with smaller karyotypes. The short chromosomes have higher rearrangement rate than long ones. These characteristics highlight distinctive features of the evolutionary dynamics of butterflies and moths. PMID:25189940

  5. The Glanville fritillary genome retains an ancient karyotype and reveals selective chromosomal fusions in Lepidoptera.

    PubMed

    Ahola, Virpi; Lehtonen, Rainer; Somervuo, Panu; Salmela, Leena; Koskinen, Patrik; Rastas, Pasi; Välimäki, Niko; Paulin, Lars; Kvist, Jouni; Wahlberg, Niklas; Tanskanen, Jaakko; Hornett, Emily A; Ferguson, Laura C; Luo, Shiqi; Cao, Zijuan; de Jong, Maaike A; Duplouy, Anne; Smolander, Olli-Pekka; Vogel, Heiko; McCoy, Rajiv C; Qian, Kui; Chong, Wong Swee; Zhang, Qin; Ahmad, Freed; Haukka, Jani K; Joshi, Aruj; Salojärvi, Jarkko; Wheat, Christopher W; Grosse-Wilde, Ewald; Hughes, Daniel; Katainen, Riku; Pitkänen, Esa; Ylinen, Johannes; Waterhouse, Robert M; Turunen, Mikko; Vähärautio, Anna; Ojanen, Sami P; Schulman, Alan H; Taipale, Minna; Lawson, Daniel; Ukkonen, Esko; Mäkinen, Veli; Goldsmith, Marian R; Holm, Liisa; Auvinen, Petri; Frilander, Mikko J; Hanski, Ilkka

    2014-09-05

    Previous studies have reported that chromosome synteny in Lepidoptera has been well conserved, yet the number of haploid chromosomes varies widely from 5 to 223. Here we report the genome (393 Mb) of the Glanville fritillary butterfly (Melitaea cinxia; Nymphalidae), a widely recognized model species in metapopulation biology and eco-evolutionary research, which has the putative ancestral karyotype of n=31. Using a phylogenetic analyses of Nymphalidae and of other Lepidoptera, combined with orthologue-level comparisons of chromosomes, we conclude that the ancestral lepidopteran karyotype has been n=31 for at least 140 My. We show that fusion chromosomes have retained the ancestral chromosome segments and very few rearrangements have occurred across the fusion sites. The same, shortest ancestral chromosomes have independently participated in fusion events in species with smaller karyotypes. The short chromosomes have higher rearrangement rate than long ones. These characteristics highlight distinctive features of the evolutionary dynamics of butterflies and moths.

  6. [Fetal abnormalities and prognosis associated with increased nuchal translucency and abnormal karyotype].

    PubMed

    Saldanha, Fátima Aparecida Targino; Brizot, Maria de Lourdes; Lopes, Lilian M; Liao, Adolfo Wenjaw; Zugaib, Marcelo

    2009-01-01

    This study aimed to evaluate the incidence of chromosomal abnormalities in fetuses with increased nuchal translucency (NT) measurement. Incidence of structural abnormalities and pregnancy outcome was also described in fetuses with increased NT and abnormal karyotype. This was a retrospective study involving 246 fetuses with increased NT and known karyotype followed at the Fetal Medicine Unit, Hospital das Clínicas, São Paulo University Medical School. Fetal karyotype was abnormal in 14.2% of the cases. Ultrasound anomaly scan and specialized echocardiographic studies in these cases showed fetal structural abnormalities in 80.8% and cardiac defects were found in 61.5% of the fetuses. Pregnancy outcome was abnormal in 76.5% of these women. Increased NT measurement at 11 to 13 weeks and 6 days is an important marker for fetal chromosomal and structural abnormalities, mainly fetal cardiac defects. This finding also indicates increased risk of spontaneous fetal and neonatal death.

  7. Chromosome identification in human oocytes and polar bodies by spectral karyotyping.

    PubMed

    Márquez, C; Cohen, J; Munné, S

    1998-01-01

    Sixty unfertilized human oocytes and two fresh polar bodies were karyotyped by spectral karyotyping (SKY). The oocytes were provided by 29 women ranging from 30 to 42 yr of age. The mean hybridization efficiency for oocytes was 95.2% (60/63). Nondisjunction of bivalent chromosomes (13.3%) and predivision of sister chromatids at meiosis I (3.3%) were unequivocally determined by analysis first with SKY and then fluorescence in situ hybridization. Four oocytes (6.7%) were hyperhaploid, six (10.0%) were hypohaploid, one (1.7%) showed balanced predivision, and another (1.7%) was diploid. No specific structural rearrangements were detected. This study demonstrates that the SKY technique can be used successfully as an alternative method of karyotyping second meiotic metaphase chromosomes from human oocytes and polar bodies in appropriate spreads.

  8. Absence of correlation between karyotype profiles of Trypanosoma congolense and resistance to isometamidium chloride.

    PubMed

    Shahada, Francis; Clausen, Peter-Henning; Tietjen, Uwe; Chuma, Takehisa; Okamoto, Karoku

    2007-07-20

    Chromosome profiles of 10 Trypanosoma (T.) congolense populations with different isometamidium sensitivities were compared using the pulsed field gel electrophoresis technique. The aim was to elucidate whether there was a karyotype pattern specific to eight isometamidium resistant phenotypes. Analysis of the profiles indicated that all populations displayed several discrete bands at the region of small, intermediate and large chromosomes. The highest similarity was observed between two isolates originating from Burkina Faso, indicating that they had the same genetic origin. Other eight strains exhibited different patterns in terms of chromosome size and numbers such that there was no characteristic karyotype pattern that was established specifically to identify resistant populations and discriminate them from the sensitive ones. This study has revealed that isometamidium resistance is not correlated to karyotype profile in T. congolense.

  9. Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma

    PubMed Central

    2011-01-01

    Background Hepatocellular carcinoma (HCC) is a worldwide malignant liver tumor with high incidence in China. Subchromosomal amplifications and deletions accounted for major genomic alterations occurred in HCC. Digital karyotyping was an effective method for analyzing genome-wide chromosomal aberrations at high resolution. Methods A digital karyotyping library of HCC was constructed and 454 Genome Sequencer FLX System (Roche) was applied in large scale sequencing of the library. Digital Karyotyping Data Viewer software was used to analyze genomic amplifications and deletions. Genomic amplifications of genes detected by digital karyotyping were examined by real-time quantitative PCR. The mRNA expression level of these genes in tumorous and paired nontumorous tissues was also detected by real-time quantitative RT-PCR. Results A total of 821,252 genomic tags were obtained from the digital karyotyping library of HCC, with 529,162 tags (64%) mapped to unique loci of human genome. Multiple subchromosomal amplifications and deletions were detected through analyzing the digital karyotyping data, among which the amplification of 7q21.3 drew our special attention. Validation of genes harbored within amplicons at 7q21.3 locus revealed that genomic amplification of SGCE, PEG10, DYNC1I1 and SLC25A13 occurred in 11 (21%), 11 (21%), 11 (21%) and 23 (44%) of the 52 HCC samples respectively. Furthermore, the mRNA expression level of SGCE, PEG10 and DYNC1I1 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts. Conclusions Our results indicated that subchromosomal region of 7q21.3 was amplified in HCC, and SGCE, PEG10 and DYNC1I1 were probable protooncogenes located within the 7q21.3 locus. PMID:21767414

  10. Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma.

    PubMed

    Dong, Hui; Zhang, Hongyi; Liang, Jianping; Yan, Huadong; Chen, Yangyi; Shen, Yan; Kong, Yalin; Wang, Shengyue; Zhao, Guoping; Jin, Weirong

    2011-07-19

    Hepatocellular carcinoma (HCC) is a worldwide malignant liver tumor with high incidence in China. Subchromosomal amplifications and deletions accounted for major genomic alterations occurred in HCC. Digital karyotyping was an effective method for analyzing genome-wide chromosomal aberrations at high resolution. A digital karyotyping library of HCC was constructed and 454 Genome Sequencer FLX System (Roche) was applied in large scale sequencing of the library. Digital Karyotyping Data Viewer software was used to analyze genomic amplifications and deletions. Genomic amplifications of genes detected by digital karyotyping were examined by real-time quantitative PCR. The mRNA expression level of these genes in tumorous and paired nontumorous tissues was also detected by real-time quantitative RT-PCR. A total of 821,252 genomic tags were obtained from the digital karyotyping library of HCC, with 529,162 tags (64%) mapped to unique loci of human genome. Multiple subchromosomal amplifications and deletions were detected through analyzing the digital karyotyping data, among which the amplification of 7q21.3 drew our special attention. Validation of genes harbored within amplicons at 7q21.3 locus revealed that genomic amplification of SGCE, PEG10, DYNC1I1 and SLC25A13 occurred in 11 (21%), 11 (21%), 11 (21%) and 23 (44%) of the 52 HCC samples respectively. Furthermore, the mRNA expression level of SGCE, PEG10 and DYNC1I1 were significantly up-regulated in tumorous liver tissues compared with corresponding nontumorous counterparts. Our results indicated that subchromosomal region of 7q21.3 was amplified in HCC, and SGCE, PEG10 and DYNC1I1 were probable protooncogenes located within the 7q21.3 locus.

  11. Comparison of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis.

    PubMed

    Boormans, Elisabeth M; Birnie, Erwin; Oepkes, Dick; Galjaard, Robert Jan; Schuring-Blom, Gijsbertha H; van Lith, Jan M

    2010-02-01

    To estimate whether multiplex ligation-dependent probe amplification (MLPA), a molecular technique used for detecting the most common chromosomal aneuploidies, is comparable with karyotyping for the detection of aneuploidies of chromosomes X, Y, 13, 18, and 21 in routine clinical practice and to estimate the costs differences of both techniques. In this prospective, nationwide cohort study, we consecutively included 4,585 women who had an amniocentesis because of their age (36 years or older), increased risk after prenatal screening, or maternal anxiety. Amniotic fluid samples were tested independently with both MLPA and karyotyping. The primary outcome was diagnostic accuracy of MLPA to detect aneuploidies of chromosomes X, Y, 13, 18, and 21. Secondary outcome measures were turnaround time for test results and costs. A sample size was calculated using a critical noninferiority margin of 0.002; therefore, at least 4,497 paired test results were needed (one-sided alpha 0.05, power 0.90). Diagnostic accuracy of MLPA was 1.0 (95% confidence interval [CI] 0.99-1.0), sensitivity was 100% (95% CI 0.96-1.0) and specificity was 100% (95% CI 0.999-1.0). Diagnostic accuracy of MLPA was statistically similar (noninferior) to that of karyotyping (P<.001). In 75 cases, MLPA failed (1.6%); karyotyping failed once (0.02%). Compared with karyotyping, MLPA shortened the waiting time by 14.5 days (P<.001, 95% CI 14.3-14.6) and cost less (-47, P<.001). In routine clinical practice, diagnostic accuracy of MLPA for detection of trisomies X, Y, 13, 18, and 21 is comparable with that of karyotyping, and it reduces waiting time at lower costs. II.

  12. Genomic Array as Compared to Karyotyping in Myelodysplastic Syndromes in a Prospective Clinical trial.

    PubMed

    Stevens-Kroef, Marian J; Olde Weghuis, Daniel; ElIdrissi-Zaynoun, Najat; van der Reijden, Bert; Cremers, Eline M P; Alhan, Canan; Westers, Theresia M; Visser-Wisselaar, Heleen A; Chitu, Dana A; Cunha, Sonia M; Vellenga, Edo; Klein, Saskia K; Wijermans, Pierre; de Greef, Georgine E; Schaafsma, M R; Muus, Petra; Ossenkoppele, Gert J; van de Loosdrecht, Arjan A; Jansen, Joop H

    2017-02-25

    Karyotyping is considered as the gold standard in the genetic subclassification of myelodysplastic syndrome (MDS). Oligo/SNP-based genomic array profiling is a high-resolution tool that also enables genome wide analysis. We compared karyotyping with oligo/SNP-based array profiling in 104 MDS patients from the HOVON-89 study. Oligo/SNP-array identified all cytogenetically defined genomic lesions, except for subclones in two cases and balanced translocations in three cases. On the other hand oligo/SNP-based genomic array profiling had a higher success rate, showing 55 abnormal cases, while an abnormal karyotype was found in only 35 patients. In 9 patients whose karyotyping was unsuccessful because of insufficient metaphases or failure, oligo/SNP-based array analysis was successful. Based on cytogenetic visible abnormalities as identified by oligo/SNP-based genomic array prognostic scores based on IPSS/-R were assigned. These prognostic scores were identical to the IPSS/-R scores as obtained with karyotyping in 95-96% of the patients. In addition to the detection of cytogenetically defined lesions, oligo/SNP-based genomic profiling identified focal copy number abnormalities or regions of copy neutral loss of heterozygosity that were out of the scope of karyotyping and fluorescence in situ hybridization. Of interest, in 26 patients we demonstrated such cytogenetic invisible abnormalities. These abnormalities often involved regions that are recurrently affected in hematological malignancies, and may therefore be of clinical relevance. Our findings indicate that oligo/SNP-based genomic array can be used to identify the vast majority of recurrent cytogenetic abnormalities in MDS. Furthermore, oligo/SNP-based array profiling yields additional genetic abnormalities that may be of clinical importance. This article is protected by copyright. All rights reserved.

  13. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

    PubMed Central

    Bernasconi, F.; Karagüzel, A.; Celep, F.; Keser, I.; Lüleci, G.; Dutly, F.; Schinzel, A. A.

    1996-01-01

    A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromosome 2. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted genes with major effect map to chromosome 2. Images Figure 1 Figure 2 PMID:8900241

  14. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

    SciTech Connect

    Bernasconi, F.; Dutly, F.; Schinzel, A.A.

    1996-11-01

    A 36-year-old normal healthy female was karyotyped because all of her five pregnancies had terminated in spontaneous abortions during the first 3 mo. Cytogenetic investigation disclosed a female karyotype with isochromosomes of 2p and 2q replacing the two normal chromosomes 2. Her husband and both of her parents had normal karyotypes. Molecular studies revealed maternal only inheritance for chromosome 2 markers. Reduction to homozygosity of all informative markers indicated that the isochromosomes derived from a single maternal chromosome 2. Except for the possibility of homozygosity for recessive mutations, maternal uniparental disomy 2 appears to have no adverse impact on the phenotype. Our data indicate that no maternally imprinted genes with major effect map to chromosome 2. 17 refs., 2 figs., 1 tab.

  15. [Application of spectral karyotyping to cytogenetic analysis in acute myeloid leukemia].

    PubMed

    Guo, Bo; Zhu, Hong-Li; Li, Su-Xia; Han, Xiao-Ping; Sun, Jing-Fen; Wang, Li-Li; Huang, Wen-Rong; Da, Wan-Ming

    2011-07-01

    To evaluate the value of spectral karyotyping (SKY) in cytogenetic analysis of acute myeloid leukemias (AML). Nine AML patients were analyzed by R-banding and SKY. MLL, PML-RARalpha, AML1-ETO fusion genes were detected by dual fusion- fluorescence in situ hybridization (D-FISH). All 9 samples were successfully hybridized. SKY identified structural aberrations including 9q -, t(15;17) and ins(10;17) (q22;p11p12) ; and some numeral abnormalities. The results of SKY confirmed those of R-band karyotyping and D-FISH; with more accurate localization. SKY appears to be fairly stable, accurate and sensitive, for AML cytogenetic study.

  16. [Retardation of psychomotor development and tremor in a boy with 48,XXYY karyotype].

    PubMed

    Bayat, Michael; Bayat, Allan

    2014-01-27

    We report a seven-year-old boy with 48,XXYY karyotype, presenting with tremor and a slight retardation of psychomotor development. Although the physical phenotype is similar to 47,XXY, 48,XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features. Increased awareness of such features is important to facilitate timely diagnosis and initiation of appropriate screenings and treatments. Karyotyping should be considered in individuals presenting with tremor and a history of develop-mental delay, learning disabilities, tall stature or micro-orchidism.

  17. FISH with whole chromosome and telomeric probes demonstrates huge karyotypic reorganization with ITS between two species of Oryzomyini (Sigmodontinae, Rodentia): Hylaeamys megacephalus probes on Cerradomys langguthi karyotype.

    PubMed

    Nagamachi, Cleusa Yoshiko; Pieczarka, Julio Cesar; O'Brien, Patricia Caroline Mary; Pinto, Jamilly Amaral; Malcher, Stella Miranda; Pereira, Adenilson Leão; Rissino, Jorge das Dores; Mendes-Oliveira, Ana Cristina; Rossi, Rogério Vieira; Ferguson-Smith, Malcolm Andrew

    2013-04-01

    Rodentia comprises 42 % of living mammalian species. The taxonomic identification can be difficult, the number of species currently known probably being underestimated, since many species show only slight morphological variations. Few studies surveyed the biodiversity of species, especially in the Amazon region. Cytogenetic studies show great chromosomal variability in rodents, with diploid numbers ranging from 10 to 102, making it difficult to find chromosomal homologies by comparative G banding. Chromosome painting is useful, but only a few species of rodents have been studied by this technique. In this study, we sorted whole chromosome probes by fluorescence-activated cell sorting from two Hylaeamys megacephalus individuals, an adult female (2n = 54) and a fetus (2n = 50). We made reciprocal chromosome painting between these karyotypes and cross-species hybridization on Cerradomys langguthi (2n = 46). Both species belong to the tribe Oryzomyini (Sigmodontinae), which is restricted to South America and were collected in the Amazon region. Twenty-four chromosome-specific probes from the female and 25 from the fetus were sorted. Reciprocal chromosome painting shows that the karyotype of the fetus does not represent a new cytotype, but an unbalanced karyotype with multiple rearrangements. Cross-species hybridization of H. megacephalus probes on metaphases of C. langguthi shows that 11 chromosomes of H. megacephalus revealed conserved synteny, 10 H. megacephalus probes hybridized to two chromosomal regions and three hybridized to three regions. Associations were observed on chromosomes pairs 1-4 and 11. Fluorescence in situ hybridization with a telomeric probe revealed interstitial regions in three pairs (1, 3, and 4) of C. langguthi chromosomes. We discuss the genomic reorganization of the C. langguthi karyotype.

  18. The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing.

    PubMed

    Riedijk, Sam; Diderich, Karin E M; van der Steen, Sanne L; Govaerts, Lutgarde C P; Joosten, Marieke; Knapen, Maarten F C M; de Vries, Femke A T; van Opstal, Diane; Tibben, Aad; Galjaard, Robert-Jan H

    2014-07-03

    Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK) for all indications for prenatal diagnosis (PND). The array detects more clinically relevant anomalies, including early onset disorders, not related to the indication and more genetic anomalies of yet unquantifiable risk, so-called susceptibility loci (SL) for mainly neurodevelopmental disorders. This manuscript highlights the psychological challenges in prenatal genetic counselling when using the array and provides counselling suggestions. First, we suggest that pre-test decision counselling should emphasize deliberation about what pregnant couples wish to learn about the future health of their fetus more than information about possible outcomes. Second, pregnant couples need support in dealing with SL. Therefore, in order to consider the SL in a proportionate perspective, the presence of phenotypes associated with SL in the family, the incidence of a particular SL in control populations and in postnatally ascertained patients needs highlighting during post-test genetic counselling. Finally, the decision that couples need to make about the course of their pregnancy is more complicated when the expected phenotype is variable and not quantifiable. Therefore, during post-test psychological counseling, couples should concretize the options of continuing and ending their pregnancy; all underlying feelings and thoughts should be made explicit, as well as the couple's resources, in order to attain adequate decision-making. As such, pre- and post-test counselling aids pregnant couples in handling the uncertainties that may accompany offering a broader scope of genetic PND using the array.

  19. The Psychological Challenges of Replacing Conventional Karyotyping with Genomic SNP Array Analysis in Prenatal Testing

    PubMed Central

    Riedijk, Sam; Diderich, Karin E. M.; van der Steen, Sanne L.; Govaerts, Lutgarde C. P.; Joosten, Marieke; Knapen, Maarten F. C. M.; de Vries, Femke A. T.; van Opstal, Diane; Tibben, Aad; Galjaard, Robert-Jan H.

    2014-01-01

    Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK) for all indications for prenatal diagnosis (PND). The array detects more clinically relevant anomalies, including early onset disorders, not related to the indication and more genetic anomalies of yet unquantifiable risk, so-called susceptibility loci (SL) for mainly neurodevelopmental disorders. This manuscript highlights the psychological challenges in prenatal genetic counselling when using the array and provides counselling suggestions. First, we suggest that pre-test decision counselling should emphasize deliberation about what pregnant couples wish to learn about the future health of their fetus more than information about possible outcomes. Second, pregnant couples need support in dealing with SL. Therefore, in order to consider the SL in a proportionate perspective, the presence of phenotypes associated with SL in the family, the incidence of a particular SL in control populations and in postnatally ascertained patients needs highlighting during post-test genetic counselling. Finally, the decision that couples need to make about the course of their pregnancy is more complicated when the expected phenotype is variable and not quantifiable. Therefore, during post-test psychological counseling, couples should concretize the options of continuing and ending their pregnancy; all underlying feelings and thoughts should be made explicit, as well as the couple’s resources, in order to attain adequate decision-making. As such, pre- and post-test counselling aids pregnant couples in handling the uncertainties that may accompany offering a broader scope of genetic PND using the array. PMID:26237473

  20. Karyotype variation, evolution and phylogeny in Borago (Boraginaceae), with emphasis on subgenus Buglossites in the Corso-Sardinian system.

    PubMed

    Selvi, Federico; Coppi, Andrea; Bigazzi, Massimo

    2006-10-01

    Karyological variation in the Mediterranean genus Borago and cytogeography of subgenus Buglossites in Corsica, Sardinia and the Tuscan Archipelago were investigated in combination with a molecular phylogenetic analysis aimed at elucidating relationships between subgenera and taxa with different chromosome features. Karyotype analysis was performed on population samples of B. pygmaea, B. morisiana, B. trabutii and B. officinalis. Phylogenetic analyses were based on ITS1 nrDNA and matK cpDNA sequences. Four base numbers were found, x = 6, 8, 9 and 15, and three ploidy levels based on x = 8. In subgenus Buglossites the Sardinian endemic B. morisiana is diploid with 2n = 18, while B. pygmaea includes three allopatric cytotypes with 2n = 30 (Sardinia), 2n = 32 (southern Corsica) and 2n = 48 (central northern Corsica and Capraia). In subgenus Borago, the Moroccan endemic B. trabutii and the widespread B. officinalis have 2n = 12 and 2n = 16, respectively. Molecular data support the monophyly of Borago, while relationships in subgenus Borago remain unclear. Borago trabutii appears as the earliest divergent lineage and is sister to a clade with B. officinalis, B. morisiana and B. pygmaea. Subgenus Buglossites is also monophyletic, but no correspondence between ITS1 phylogeny and B. pygmaea cytotypes occurs. Chromosome variation in Borago is wider than previously known. Two base numbers may represent the ancestral condition in this small genus, x = 6 or x = 8. An increase in chromosome number and karyotype asymmetry, a decrease in chromosome size and heterochromatin content, and the appearance of polyploidy are the most significant karyological changes associated with the divergence of the Buglossites clade. High ITS1 variation in the tetra- and hypotetraploid races of B. pygmaea suggests a multiple origin, while the lower polymorphism of the hexaploid race and its allopatric distribution in the northernmost part of the range is better explained with a single origin via

  1. Karyotype Variation, Evolution and Phylogeny in Borago (Boraginaceae), with Emphasis on Subgenus Buglossites in the Corso-Sardinian System

    PubMed Central

    SELVI, FEDERICO; COPPI, ANDREA; BIGAZZI, MASSIMO

    2006-01-01

    • Background and Aims Karyological variation in the Mediterranean genus Borago and cytogeography of subgenus Buglossites in Corsica, Sardinia and the Tuscan Archipelago were investigated in combination with a molecular phylogenetic analysis aimed at elucidating relationships between subgenera and taxa with different chromosome features. • Methods Karyotype analysis was performed on population samples of B. pygmaea, B. morisiana, B. trabutii and B. officinalis. Phylogenetic analyses were based on ITS1 nrDNA and matK cpDNA sequences. • Key Results Four base numbers were found, x = 6, 8, 9 and 15, and three ploidy levels based on x = 8. In subgenus Buglossites the Sardinian endemic B. morisiana is diploid with 2n = 18, while B. pygmaea includes three allopatric cytotypes with 2n = 30 (Sardinia), 2n = 32 (southern Corsica) and 2n = 48 (central northern Corsica and Capraia). In subgenus Borago, the Moroccan endemic B. trabutii and the widespread B. officinalis have 2n = 12 and 2n = 16, respectively. Molecular data support the monophyly of Borago, while relationships in subgenus Borago remain unclear. Borago trabutii appears as the earliest divergent lineage and is sister to a clade with B. officinalis, B. morisiana and B. pygmaea. Subgenus Buglossites is also monophyletic, but no correspondence between ITS1 phylogeny and B. pygmaea cytotypes occurs. • Conclusions Chromosome variation in Borago is wider than previously known. Two base numbers may represent the ancestral condition in this small genus, x = 6 or x = 8. An increase in chromosome number and karyotype asymmetry, a decrease in chromosome size and heterochromatin content, and the appearance of polyploidy are the most significant karyological changes associated with the divergence of the Buglossites clade. High ITS1 variation in the tetra- and hypotetraploid races of B. pygmaea suggests a multiple origin, while the lower polymorphism of the hexaploid race and its allopatric distribution in the

  2. A framework to quantify karyotype variation associated with CHO cell line instability at a single-cell level.

    PubMed

    Baik, Jong Youn; Lee, Kelvin H

    2017-05-01

    Chinese hamster ovary (CHO) cells, the major mammalian host cells for biomanufacturing of therapeutic proteins, have been extensively investigated to enhance productivity and product quality. However, cell line instability resulting in unexpected changes in productivity or product quality continues to be a challenge. Based on previous reports about causes and characteristics of production instability, we hypothesized that chromosomal rearrangements due to genomic instability are associated with production instability and that these events can be characterized. We developed a production instability model using secreted alkaline phosphatase (SEAP)-expressing CHO cells (CHO-SEAP) as well as a framework to quantify chromosomal rearrangements by karyotyping. In the absence of methotrexate (MTX), CHO-SEAP cells exhibited a slightly increased growth rate, a significantly decreased specific productivity, and changes in the chromosomal rearrangement ratio of seven chromosomes. In contrast, when MTX was re-introduced, the growth rate and SEAP productivity reversed to the initial values, demonstrating the reversibility of production instability in CHO-SEAP cells. Fluorescence in situ hybridization analysis identified that the SEAP genes were incorporated in the chromosomal rearrangement (insertion) part of the der(Z9) chromosome. Karyotype analysis indicated that the insertion ratio of the der(Z9) chromosome decreased in the CHO-SEAP cells grown without MTX, demonstrating a correlation between chromosomal rearrangement and production instability. Our results support a mechanism for production instability, wherein a randomly generated chromosomal rearrangement (or genotype) results in cells with a growth advantage that is also associated with non (or low)-producing traits. As a result, the non-producing cells grow faster and thereby outgrow the producing population. Biotechnol. Bioeng. 2017;114: 1045-1053. © 2016 Wiley Periodicals, Inc.

  3. Advocating for Normal Birth With Normal Clothes

    PubMed Central

    Waller-Wise, Renece

    2007-01-01

    Childbirth educators need to be aware that the clothes they wear when teaching classes send a nonverbal message to class participants. Regardless of who wears the clothing or what is worn, clothes send a message; thus, both the advantages and disadvantages related to clothing choice should be considered. Ultimately, the message should reflect the values of supporting normal birth. For childbirth educators who are allowed to choose their own apparel to wear in their classes, street clothes may be the benchmark for which to strive. This article discusses the many nonverbal messages that clothes convey and provides support for the choice of street clothes as the dress for the professional childbirth educator; thus, “normal clothes to promote normal birth.” PMID:18408807

  4. Quantitative-fluorescent-PCR versus full karyotyping in prenatal diagnosis of common chromosome aneuploidies in southern Spain.

    PubMed

    de la Paz-Gallardo, M José; García, Francisca S Molina; de Haro-Muñoz, Tomas; Padilla-Vinuesa, M Carmen; Zafra-Ceres, Mercedes; Gomez-Capilla, José A; Gomez-Llorente, Carolina

    2015-08-01

    Quantitative-fluorescent polymerase chain reaction (QF-PCR) is a reliable, rapid, and economic technique for prenatal diagnosis of the most common abnormalities. However, conventional karyotyping is expensive and requires a much longer time to yield results. It is currently under debate whether the replacement or restriction of karyotyping reduces the quality of prenatal test results. This study was undertaken to determine the percentage of clinically significant chromosomal abnormalities that would not be detected if QF-PCR was the main analysis method and karyotyping reserved for cases with increased nuchal translucency (NT) and/or abnormal ultrasound findings and to estimate the difference in cost between QF-PCR and full karyotyping. Nine hundred twenty-eight pregnant women underwent an invasive procedure at our center between May 2009 and December 2012, yielding 580 (62.5%) chorionic villous samples and 348 (37.5%) amniotic fluid samples. Samples were studied by both QF-PCR and full karyotyping. Karyotyping and detailed ultrasound findings were retrospectively analyzed. If QF-PCR was the main analytic method and full karyotyping reserved for cases with elevated NT (≥4.5) and/or abnormal ultrasound findings, 12.7% of the patients would have required full karyotyping, 99% of the clinically significant chromosomal abnormalities would have been detected, and the cost would have been 54% lower than a policy of full karyotyping for all. Detailed prenatal ultrasound scan can reduce the need for conventional karyotyping as a complement to QF-PCR in most prenatal samples, offering rapid results and reducing parental anxiety and healthcare costs.

  5. Impact of SNP array karyotyping on the diagnosis and the outcome of chronic myelomonocytic leukemia with low risk cytogenetic features or no metaphases.

    PubMed

    Palomo, Laura; Xicoy, Blanca; Garcia, Olga; Mallo, Mar; Ademà, Vera; Cabezón, Marta; Arnan, Montse; Pomares, Helena; José Larrayoz, María; José Calasanz, María; Maciejewski, Jaroslaw P; Huang, Dayong; Shih, Lee-Yung; Ogawa, Seishi; Cervera, Jose; Such, Esperanza; Coll, Rosa; Grau, Javier; Solé, Francesc; Zamora, Lurdes

    2016-02-01

    Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic disorder with heterogeneous clinical, morphological and genetic characteristics. Clonal cytogenetic abnormalities are found in 20-30% of patients with CMML. Patients with low risk cytogenetic features (normal karyotype and isolated loss of Y chromosome) account for ∼80% of CMML patients and often fall into the low risk categories of CMML prognostic scores. We hypothesized that single nucleotide polymorphism arrays (SNP-A) karyotyping could detect cryptic chromosomal alterations with prognostic impact in these subgroup of patients. SNP-A were performed at diagnosis in 128 CMML patients with low risk karyotypes or uninformative results for conventional G-banding cytogenetics (CC). Copy number alterations (CNAs) and regions of copy number neutral loss of heterozygosity (CNN-LOH) were detected in 67% of patients. Recurrent CNAs included gains in regions 8p12 and 21q22 as well as losses in 10q21.1 and 12p13.2. Interstitial CNN-LOHs were recurrently detected in the following regions: 4q24-4q35, 7q32.1-7q36.3, and 11q13.3-11q25. Statistical analysis showed that some of the alterations detected by SNP-A associated with the patients' outcome. A shortened overall survival (OS) and progression free survival (PFS) was observed in cases where the affected size of the genome (considering CNAs and CNN-LOHs) was >11 Mb. In addition, presence of interstitial CNN-LOH was predictive of poor OS. Presence of CNAs (≥1) associated with poorer OS and PFS in the patients with myeloproliferative CMML. Overall, SNP-A analysis increased the diagnostic yield in patients with low risk cytogenetic features or uninformative CC and added prognostic value to this subset of patients. © 2015 Wiley Periodicals, Inc.

  6. A dispermic chimera was identified in a healthy man with mixed field agglutination reaction in ABO blood grouping and mosaic 46, XY/46, XX karyotype.

    PubMed

    Hong, Xiaozhen; Ying, Yanlin; Xu, Xianguo; Liu, Ying; Chen, Zhimei; Lan, Xiaofei; Ma, Kairong; He, Ji; Zhu, Faming; Lv, Hangjun; Yan, Lixing

    2013-04-01

    Chimerism is the presence of two or more genetically distinct cell populations in one organism. Here, we reported the identification of dispermic chimerism in a 25-year-old male. Blood grouping was performed with standard gel centrifugation test cards. ABO and HLA-A,-B,-C,-DRB1 and -DQB1 loci genotyping was determined with PCR sequence-based typing. A quantitative analysis of dual red cells populations was measured by flow cytometer. The karyotype was analyzed by G-banded chromosomes. Short tandem repeat (STR) analysis was performed on blood, buccal mucosal and hair shafts samples. A mixed-field agglutination with anti-B antibody was observed with gel centrifugation tests, which showed a double populations of O and B groups RBCs. Two groups RBCs were also observed by flow cytometer with nearly 90% O group cells and 10% B group cells. The normal O01,O02,B101 alleles were identified in DNA sample of the proband. STR analysis revealed three alleles for D8S1179,D3S1358,TH01,D13S317,D16S539,D2S1338,D19S433,TPOX and D18S51 loci. HLA-DRB1 and -DQB1 loci had three alleles and a karyotypic mosaic was found with 60% 46, XY and 40% 46, XX karyotype in the proband. In all studies, the third allele was attributable to a dual paternal contribution. A individual with dispermic chimerism was identified, which would generate by fertilization of an oocyte and the corresponding second polar body by two different sperms. Copyright © 2012 Elsevier Ltd. All rights reserved.

  7. Effect of hypoxia and TP53 mutation status and cytogenetics of normal and malignant mammary epithelium.

    PubMed

    Vidarsson, Hilmar; Steinarsdóttir, Margrét; Jónasson, Jón Gunnlaugur; Júlíusdóttir, Hildur; Hauksdóttir, Halla; Hilmarsdóttir, Hólmfrídur; Halldórsdóttir, Kristín; Ogmundsdóttir, Helga M

    2006-03-01

    It has been proposed that hypoxia favors the growth of tumor cells over normal cells, particularly tumor cells carrying TP53 mutations. Cytogenetic studies of breast cancer have shown that highly complex karyotypes seen in direct harvest preparations are rarely detected after short-term culture. In this study, 34 paired samples of breast carcinomas and grossly nontumorous tissue from the same breast were cultured at 20 and 5% (12 samples) or 20 and 0% oxygen (22 samples). Both carcinoma samples and nontumorous tissue survived at 0% oxygen. Recovery for 24 hours at 20% produced good yields for cytogenetic analysis. Lower oxygen levels did not specifically stimulate growth of tumor cells. Samples with TP53 mutations showed a consistently increased growth under anaerobic hypoxic conditions. Culture at 5% oxygen did not generally reveal more karyotypic abnormalities than found at 20%. In the samples cultured at 0 and 20%, karyotypic abnormalities were detected only in anaerobic hypoxic culture in two cases. Of the only four samples where more complex karyotypes were detected in the low-oxygen culture, two were TP53 mutated. Hypoxic treatment followed by recovery at 20% oxygen may thus increase the yield of complex karyotypes from a subset of breast carcinomas, particularly those with mutated TP53.

  8. Rapid karyotyping of neonates on the basis of data from cord blood.

    PubMed Central

    Garnham, I; Sutherland, G R

    1987-01-01

    A method is described for karyotyping neonates on the basis of data from cord blood--by means of direct examination of dividing cells--that yields results within a few hours of birth. This method obviates the need for bone-marrow aspiration when chromosome studies are required urgently. Images Fig. 1 PMID:3661562

  9. Prenatal Screening for Aneuploidies Using QF-PCR and Karyotyping: A Comprehensive Study in Iranian Population.

    PubMed

    Rostami, Parvin; Valizadegan, Sahar; Ghalandary, Maryam; Mehrjouy, Mana M; Esmail-Nia, Giti; Khalili, Soheila; Shahmoradi, Shahrzad Sadat; Imanian, Hashem; Hadavi, Valeh; Ghaderi-Sohi, Siavash; Almadani, Navid; Afroozan, Fariba; Kariminejad, Ariana; Kariminejad, Roxana; Najmabadi, Hossein

    2015-05-01

    We have investigated the efficacy of QF-PCR for the prenatal recognition of common aneuploidy and compared our findings with cytogenetic results in our laboratories. A total of 4058 prenatal samples (4031 amniotic fluid and 27 chorionic villous samples) were analyzed by QF-PCR using several selected STR markers together with amelogenin. Results were compared to those obtained by conventional cytogenetic analysis. We detected 139 (3.42%) numerical abnormalities in our subjects by QF-PCR. Concordant QF-PCR and karyotype results were obtained in 4001 (98.59%) of the samples. An abnormal karyotype associated with adverse clinical outcome undetected by QF-PCR was found in 16.66% (n = 28) of samples. Using QF-PCR alone, we were able to detect abnormalities in 98.59% of all referred families; however the karyotyping results improved the detection rate to 99.85% of the referred cases. Individuals with neonatal screening result with 1:10 risk ratio showed 11.29% abnormal karyotype while this number was 2.16% in mothers with risk ratio of 1:250 or less. In countries where large scale conventional cytogenetic is hampered by its high cost and lack of technical expertise, QF-PCR may be used as the first line of screening for detection of chromosomal abnormalities. We also recommend QF-PCR for all the families that are seeking prenatal diagnosis of single gene disorders aneuploidies screening to be added to their work up.

  10. Major Cytogenetic Landmarks and Karyotype Analysis in Carrot (Daucus carota L.) and Other Apiaceace

    USDA-ARS?s Scientific Manuscript database

    Karyotyping can be helpful for understanding species evolution and relationships. Cytological studies in Apiaceae have provided information on the chromosome number and morphology of several crops. However, karyological data of their wild relatives are scarce. In addition, the number of chromosomes ...

  11. First Description of the Karyotype and Sex Chromosomes in the Komodo Dragon (Varanus komodoensis).

    PubMed

    Johnson Pokorná, Martina; Altmanová, Marie; Rovatsos, Michail; Velenský, Petr; Vodička, Roman; Rehák, Ivan; Kratochvíl, Lukáš

    2016-01-01

    The Komodo dragon (Varanus komodoensis) is the largest lizard in the world. Surprisingly, it has not yet been cytogenetically examined. Here, we present the very first description of its karyotype and sex chromosomes. The karyotype consists of 2n = 40 chromosomes, 16 macrochromosomes and 24 microchromosomes. Although the chromosome number is constant for all species of monitor lizards (family Varanidae) with the currently reported karyotype, variability in the morphology of the macrochromosomes has been previously documented within the group. We uncovered highly differentiated ZZ/ZW sex microchromosomes with a heterochromatic W chromosome in the Komodo dragon. Sex chromosomes have so far only been described in a few species of varanids including V. varius, the sister species to Komodo dragon, whose W chromosome is notably larger than that of the Komodo dragon. Accumulations of several microsatellite sequences in the W chromosome have recently been detected in 3 species of monitor lizards; however, these accumulations are absent from the W chromosome of the Komodo dragon. In conclusion, although varanids are rather conservative in karyotypes, their W chromosomes exhibit substantial variability at the sequence level, adding further evidence that degenerated sex chromosomes may represent the most dynamic genome part.

  12. Karyotype Analysis in Wild Diploid, Tetraploid, and Hexaploid Strawberries, Fragaria (Rosaceae)

    USDA-ARS?s Scientific Manuscript database

    The Strawberry, genus Fragaria (Rosaceae) has a basic chromosome count of x = 7, and is comprised of 20 wild species having an euploid series from diploid (2n = 2x = 14) through decaploid (2n = 10x = 70). Few karyotypes of species in this genus have been reported. The objective of this research was ...

  13. Karyotype and C-Banding Patterns of Mitotic Chromosomes in Meadow Bromegrass (Bromus riparius Rehm)

    USDA-ARS?s Scientific Manuscript database

    Chromosomes of meadow bromegrass, Bromus riparius, are mainly median and similar in morphology. C-bands were located at telomeric regions of the chromosomes. Majority of the chromosomes had telomeric bands either in one or both arms. Approximately 10 chromosomes had no C-bands. Karyotype of meadow b...

  14. Iso X(q)Y karyotype in a phenotypically female child

    SciTech Connect

    Brenhofer, J.; McCorquodale, M.; Burton, B.K.

    1994-09-01

    A phenotypically female child of healthy and unrelated Irish/German and Irish/German/Swedish parents was diagnosed with an XY karyotype as an infant. She presented for reevaluation at 10 years of age at which time physical examination revealed severe growth and mental retardation, frequent absence seizures, mildly dysmorphic facial features, and female prepubertal external genitalia. Ultrasound examination of the abdomen revealed no evidence of a uterus or ovaries. Laproscopic examination has not yet been performed. The family history is unremarkable. High resolution chromosome analysis was recommended which revealed a 46, iso X(q)Y karyotype. Chromosome painting of the X and Y chromosomes confirmed their identity. No mosaicism was detected in peripheral blood and no X chromosome short arm material could be detected. The literature has inidicated that Turner syndrome stigmata have been observed in females with an iso X chromosome. However, our patient does not have any Turner syndrome stigmata. It is difficult to explain the phenotypic findings in this patient based on the karyotypic abnormality noted in peripheral blood. Study of other tissues has been recommended. We have been unable to identify any other cases of a 46, iso X(q)Y karyotype in either males or females.

  15. Comparative Chromosome Map and Heterochromatin Features of the Gray Whale Karyotype (Cetacea).

    PubMed

    Kulemzina, Anastasia I; Proskuryakova, Anastasia A; Beklemisheva, Violetta R; Lemskaya, Natalia A; Perelman, Polina L; Graphodatsky, Alexander S

    2016-01-01

    Cetacean karyotypes possess exceptionally stable diploid numbers and highly conserved chromosomes. To date, only toothed whales (Odontoceti) have been analyzed by comparative chromosome painting. Here, we studied the karyotype of a representative of baleen whales, the gray whale (Eschrichtius robustus, Mysticeti), by Zoo-FISH with dromedary camel and human chromosome-specific probes. We confirmed a high degree of karyotype conservation and found an identical order of syntenic segments in both branches of cetaceans. Yet, whale chromosomes harbor variable heterochromatic regions constituting up to a third of the genome due to the presence of several types of repeats. To investigate the cause of this variability, several classes of repeated DNA sequences were mapped onto chromosomes of whale species from both Mysticeti and Odontoceti. We uncovered extensive intrapopulation variability in the size of heterochromatic blocks present in homologous chromosomes among 3 individuals of the gray whale by 2-step differential chromosome staining. We show that some of the heteromorphisms observed in the gray whale karyotype are due to distinct amplification of a complex of common cetacean repeat and heavy satellite repeat on homologous autosomes. Furthermore, we demonstrate localization of the telomeric repeat in the heterochromatin of both gray and pilot whale (Globicephala melas, Odontoceti). Heterochromatic blocks in the pilot whale represent a composite of telomeric and common repeats, while heavy satellite repeat is lacking in the toothed whale consistent with previous studies.

  16. The parental origin correlates with the karyotype of human embryos developing from tripronuclear zygotes.

    PubMed

    Joergensen, Mette Warming; Labouriau, Rodrigo; Hindkjaer, Johnny; Stougaard, Magnus; Kolevraa, Steen; Bolund, Lars; Agerholm, Inge Errebo; Sunde, Lone

    2015-03-01

    It has previously been suggested that embryos developing from intracytoplasmic sperm-injected (ICSI) zygotes with three pronuclei (3PN) are endowed with a mechanism for self-correction of triploidy to diploidy. 3PN are also observed in zygotes after conventional in vitro fertilization (IVF). The parental origin, however, differs between the two fertilization methods. Whereas the vast majority of 3PN IVF zygotes are of dispermic origin and thus more likely to have two centrioles, the 3PN ICSI zygotes are digynic in origin and therefore, more likely to have one centriole. In the present study, we examine whether the parental origin of 3PN embryos correlates with the karyotype. The karyotype of each nucleus was estimated using four sequential fluorescence in situ hybridizations-each with two probes-resulting in quantitative information of 8 different chromosomes. The karyotypes were then compared and correlated to the parental origin. 3PN ICSI embryos displayed a significantly larger and more coordinated reduction from the assumed initial 3 sets of chromosomes than 3PN IVF embryos. The differences in the parental origin-and hence the number of centrioles-between the 3PN IVF and the 3PN ICSI zygotes are likely to be the cause of the differences in karyotypes.

  17. Comparative karyotypic analysis in the Alstroemeria hookeri Lodd. (Alstroemeriaceae) complex sensu Bayer (1987).

    PubMed

    Baeza, Carlos; Ruiz, Eduardo; Negritto, María

    2010-01-01

    Alstroemeria L. (Alstroemeriaceae) is an American genus of monocots with two principal distribution centers in Chile and Brazil. In Chile, it is represented by about 32 species, most of them in central Chile, an area known for its high level of endemism. The "complex" Alstroemeriahookeri is endemic to Chile, where it is distributed from the Coquimbo to the Bío-Bío Region. We analyzed the karyotypes of 36 populations of this complex along its natural distribution. Ten metaphases per population were used for chromosome measurements. All analyzed subspecies presented a well defined asymmetric karyotype. The populations of A. hookeri subsp. hookeri collected in the coastal range of the Bío-Bío Region and the populations from the Central Valley of this Region (Pangal del Laja) presented striking morphological differences in the karyotype, mainly on chromosome 3. The population of A. hookeri subsp. recumbens from Pichicuy showed a polymorphism on chromosome 7, which differed from the other analyzed populations of this subspecies. Phenetic analysis suggested that A. hookeri subsp. cummingiana, which showed a more symmetrical karyotype and did not grow in sandy soil, should be alocated to A. cummingiana rather than considered as part of the hookeri complex.

  18. Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain.

    PubMed

    Viana, Joana; Pidsley, Ruth; Troakes, Claire; Spiers, Helen; Wong, Chloe Cy; Al-Sarraj, Safa; Craig, Ian; Schalkwyk, Leonard; Mill, Jonathan

    2014-04-01

    Klinefelter syndrome (KS) is the most common sex-chromosome aneuploidy in humans. Most affected individuals carry one extra X-chromosome (47,XXY karyotype) and the condition presents with a heterogeneous mix of reproductive, physical and psychiatric phenotypes. Although the mechanism(s) by which the supernumerary X-chromosome determines these features of KS are poorly understood, skewed X-chromosome inactivation (XCI), gene-dosage dysregulation, and the parental origin of the extra X-chromosome have all been implicated, suggesting an important role for epigenetic processes. We assessed genomic, methylomic and transcriptomic variation in matched prefrontal cortex and cerebellum samples identifying an individual with a 47,XXY karyotype who was comorbid for schizophrenia and had a notably reduced cerebellum mass compared with other individuals in the study (n = 49). We examined methylomic and transcriptomic differences in this individual relative to female and male samples with 46,XX or 46,XY karyotypes, respectively, and identified numerous locus-specific differences in DNA methylation and gene expression, with many differences being autosomal and tissue-specific. Furthermore, global DNA methylation, assessed via the interrogation of LINE-1 and Alu repetitive elements, was significantly altered in the 47,XXY patient in a tissue-specific manner with extreme hypomethylation detected in the prefrontal cortex and extreme hypermethylation in the cerebellum. This study provides the first detailed molecular characterization of the prefrontal cortex and cerebellum from an individual with a 47,XXY karyotype, identifying widespread tissue-specific epigenomic and transcriptomic alterations in the brain.

  19. Karyotype Plasticity in Crickets: Numerical, Morphological, and Nucleolar Organizer Region Distribution Pattern of Anurogryllus sp.

    PubMed Central

    Cristina Schneider, Marielle; Ariza Zacaro, Adilson; Ferreira, Amilton; Maria Cella, Doralice

    2010-01-01

    Within the Orthopteran species, those of the suborder Ensifera have been rarely studied from the cytogenetic point of view, mainly due to the difficulties for taxonomic identification of its species. The Gryllidae is the second largest family of this suborder and possesses some genera, such as Anurogryllus, that occur only on the American continents. The aim of this work was to determine the karyotype characteristics, the meiotic chromosome behaviour, and the nucleolar organizer region (NOR) pattern of Anurogryllus sp (Orthoptera: Gryllidae). In the analyzed sample, high levels of numerical, morphological, and NORs polymorphisms were detected. Within five distinct karyotypes that were found, the basic karyotype of Anurogryllus sp. showed 2n(♂) = 22 + X0 with acrocentric autosomes and a metacentric X sex chromosome; furthermore, a conspicuous secondary constriction related to the NOR was present along the entire short arm on pair 5. The other four types of karyotypes arose from centric fusions between elements of pairs 1/3, 2/6, 4/7 and a NOR partial translocation from pair 5 onto the long arm terminal region of one element of the fused pair 2/6. Such intraspecific variability and the consequences of high levels of polymorphism are discussed, leading to conjectures about the mechanisms that led to these chromosome rearrangements. PMID:20673072

  20. [Characteristics of quantitative karyotypic variability in cell line of kidney from rat kangaroo (Potorous tridactylis)].

    PubMed

    Polianskaia, G G; Samokish, V A

    1999-01-01

    The numerical regulations of karyotypic variability in cell line of rat kangaroo kidney, NBL-3-11, has been investigated. These regulations are similar with ones found for cell lines of the Indian muntjac skin fibroblasts (M, MT, M2). In particular the balanced karyotypic structure of cell population in vitro is determined by correlations of the structural variants of the karyotype (SVK). These correlations depend on the following regulations 1) nonrandom character of cell distribution according to the number of chromosomal deviations from MSVK; 2) specific character of deviations of each chromosome from MSVK; 3) presence of significant connections between separate chromosomes with simultaneous numeral deviations some differences in the character of significant connections between the individual chromosomes. These connections have either single directed character, mainly (+) direction, or differently directed one by deviations of each chromosome mainly in one direction in cell line NBL-3-11. At the same time single directed character of simultaneous deviations is observed in cell lines of the Indian muntjac skin fibroblasts (M, MT, M2) either in (+) or (-) direction. Represented results confirm and extend considerably the known ideas of the regulations of karyotypic variability in cell populations in vitro.

  1. [Characteristics of quantitative karyotypic variability in cell line of kidney from rat kangaroo (Potorous tridactylis)].

    PubMed

    Polianskaia, G G; Samokish, V A

    1999-01-01

    The goal of this work was to investigate the numeral karyotypic variability in different sublines (MT, M2). These sublines are formed spontaneously from the main cell line (M) and have modal number of chromosomes 9 and 10, MSVK (main structural variant karyotype)--3 + 3 + 1 + 2 and 3 + 4 + 2 + 1. There are general regulations which were originally got for the line M. In particular: 1) nonrandom character of cell distribution according to the number of chromosomal deviations from MSVK; 2) specific character of deviations of each chromosome from MSVK; 3) presence of significant connections between separate chromosomes by simultaneous, mainly single directed numeral deviations. These three lines (M, MT, M2) were compared and some differences were found: 1) different frequencies of deviations from MSVK; 2) the same chromosomes have tendency to different numeral deviation; 3) the specificity of some significant connections between separate chromosomes by simultaneous numeral deviations. These results lead us to a conclusion that the balance of numerical karyotypic structure in cell populations depends on the regulations connected with the character of deviations according to the number of chromosomes from MSVK which has the largest selected advantage. Each line has its own specific limits of karyotypic variability.

  2. Reference karyotype and cytomolecular map for loblolly pine (Pinus taeda L.)

    Treesearch

    M. Nurul Islam-faridi; C. Dana Nelson; Thomas L. Kubisiak

    2007-01-01

    A reference karyotype is presented for loblolly pine (Pinus taeda L., subgenus Pinus , section Pinus, subsection Australes), based on fluorescent in situ hybridization (FISH), using 18s-28s rDNA, 5s rDNA, and Arabidopsis-type telomere repeat sequence (A-type TRS). Well...

  3. First karyotype description of Hypostomus iheringii (Regan, 1908): a case of heterochromatic polymorphism

    PubMed Central

    Traldi, Josiane Baccarin; Vicari, Marcelo Ricardo; Blanco, Daniel Rodrigues; Martinez, Juliana de Fátima; Artoni, Roberto Ferreira; Moreira-Filho, Orlando

    2012-01-01

    Abstract In this study, which is the first karyotype analysis of Hypostomus iheringii, nine specimens collected in Córrego da Lapa (tributary of the Passa-Cinco River) showed a diploid number of 80 chromosomes. Silver nitrate staining and fluorescence in situ hybridization (FISH) with an 18S rDNA probe revealed the presence of multiple nucleolus organizer regions (NORs) (chromosome pairs 13, 20, and 34). FISH with a 5S rDNA probe showed that this cistron was only present in chromosome pair 2. When the karyotypes of individual animals were compared, unique heterochromatic polymorphisms were detected on chromosome pairs 1 and 5. Specifically, specimens had heterochromatic blocks (h+h+) on both chromosomes, one chromosome with heterochromatic blocks (h+h-) or chromosomes that lacked heterochromatic blocks (h-h-). Considering that heteromorphic pattern is not correlated with variation in size, the process of heterochromatinization might act on the long arms of these chromosomes. In summary, all chromosomal markers indicate that the karyotype of Hypostomus iheringii is highly differentiated and that the heterochromatinization of chromosomal segments may have contributed to its karyotypic differentiation. PMID:24260656

  4. A technique for in situ karyotyping of primary amniotic fluid cell cultures.

    PubMed

    Schmid, W

    1975-12-23

    A time proven technique is described for growing amniotic fluid cell cultures on cover glasses in Leighton tubes and for processing the mitotic cells in situ. Karyotyping the clones in situ eliminates most of the problems caused by somatic chromosome mutations in vitro and by maternal cell growth.

  5. Karyotype characterization of Eurysternus caribaeus: the smallest diploid number among Scarabaeidae (Coleoptera: Scarabaeoidea).

    PubMed

    Cabral-de-Mello, Diogo Cavalcanti; Silva, Fernando Augusto Barbosa; de Cássia de Moura, Rita

    2007-01-01

    Eurysternus caribaeus was analyzed cytologically by conventional chromosomal staining. The species presents a diploid number of 2n=8, chromosomes with two arms and an XY sex determining mechanism. This is the first karyotype described for the genus Eurysternus and the tribe Eurysternini, and is also the smallest diploid number observed in the family Scarabaeidae and superfamily Scarabaeoidea.

  6. First description of the karyotype of a eucharitid wasp (Hymenoptera, Chalcidoidea, Eucharitidae)

    PubMed Central

    Santos, Igor Silva; Delabie, Jacques Hubert Charles; Costa, Marco Antonio; Mariano, Cléa Santos Ferreira; Silva, Janisete Gomes

    2015-01-01

    Abstract The haploid karyotype of Kapala sp. (Eucharitidae), a parasite of the Neotropical ant Dinoponera lucida Emery, 1901 (Hymenoptera, Formicidae), is reported for the first time. It consists of four metacentric chromosomes. Chromosomes in the family Eucharitidae were unknown so far; therefore, our results confirm that multiple parallel chromosomal fusions have taken place in several lineages within the superfamily Chalcidoidea. PMID:26753077

  7. Fear of pregnancy loss and fetal karyotyping: a place for third-trimester amniocentesis?

    PubMed

    Picone, Olivier; Senat, Marie-Victoire; Rosenblatt, Jonathan; Audibert, François; Tachdjian, Gerard; Frydman, Rene

    2008-01-01

    To assess the complications of third-trimester amniocentesis for fetal karyotyping in women unwilling to accept the fetal loss risks of second-trimester amniocentesis. Retrospective study of singleton pregnancies that underwent a third-trimester amniocentesis for karyotyping. 150 complete charts between 1998 and 2005 were reviewed. The indications were: isolated abnormal second-trimester biochemical markers (n = 57), isolated maternal age >38 years (n = 46), integrated risk (maternal age, first-trimester nuchal translucency, second-trimester maternal serum markers) >1/250 (n = 22), history of chromosomal abnormality (n = 17) or maternal choice (n = 8). The median maternal age and gestational age at sampling were: 40 years (23-48), 32.4 weeks (29.7-37.1). Median interval between amniocentesis, definitive result of amniocentesis, and delivery were 14 days (7-42), and 49 days (10-67) respectively. There were no abnormal karyotypes and no termination of pregnancy. Six women out of 150 (4%) had spontaneous labor before 36 weeks (2% after 36 weeks). The risk of spontaneous labor before 37 weeks after late amniocentesis is 4% (2% before 36 weeks). This technique provides a late but safe reassurance to women who are unwilling to accept the risks of earlier fetal karyotyping. This is of interest to countries such as France where legislation permits late termination of pregnancy. (c) 2007 S. Karger AG, Basel

  8. Comparative karyotypic analysis in the Alstroemeria hookeri Lodd. (Alstroemeriaceae) complex sensu Bayer (1987)

    PubMed Central

    2010-01-01

    Alstroemeria L. (Alstroemeriaceae) is an American genus of monocots with two principal distribution centers in Chile and Brazil. In Chile, it is represented by about 32 species, most of them in central Chile, an area known for its high level of endemism. The “complex” Alstroemeriahookeri is endemic to Chile, where it is distributed from the Coquimbo to the Bío-Bío Region. We analyzed the karyotypes of 36 populations of this complex along its natural distribution. Ten metaphases per population were used for chromosome measurements. All analyzed subspecies presented a well defined asymmetric karyotype. The populations of A. hookeri subsp. hookeri collected in the coastal range of the Bío-Bío Region and the populations from the Central Valley of this Region (Pangal del Laja) presented striking morphological differences in the karyotype, mainly on chromosome 3. The population of A. hookeri subsp. recumbens from Pichicuy showed a polymorphism on chromosome 7, which differed from the other analyzed populations of this subspecies. Phenetic analysis suggested that A. hookeri subsp. cummingiana, which showed a more symmetrical karyotype and did not grow in sandy soil, should be alocated to A. cummingiana rather than considered as part of the hookeri complex. PMID:21637614

  9. Chromosomal evolution of Arvicolinae (Cricetidae, Rodentia). III. Karyotype relationships of ten Microtus species.

    PubMed

    Lemskaya, Natalia A; Romanenko, Svetlana A; Golenishchev, Feodor N; Rubtsova, Nadezhda V; Sablina, Olga V; Serdukova, Natalya A; O'Brien, Patricia C M; Fu, Beiyuan; Yiğit, Nuri; Ferguson-Smith, Malcolm A; Yang, Fengtang; Graphodatsky, Alexander S

    2010-06-01

    The genus Microtus consists of 65 extant species, making it one of the rodentia genera with the highest number of species. The extreme karyotype diversification in Microtus has made them an ideal species group for comparative cytogenetics and cytotaxonomy. Conventional comparative cytogenetic studies in Microtus have been based mainly on chromosomal banding patterns; the number of Microtus species examined by molecular cytogenetics-cross-species chromosome painting-is limited. In this study, we used whole chromosome painting probes of the field vole Microtus agrestis to detect regions of homology in the karyotypes of eight Microtus species. For almost all investigated species, species-specific associations of conserved chromosomal segments were revealed. Analysis of data obtained here and previously published data allowed us to propose that the ancestral Microtus species had a 2n = 54 karyotype, including two associations of field vole chromosomal segments (MAG 1/17 and 2/8). Further mapping of the chromosome rearrangements onto a molecular phylogenetic tree allows the reconstruction of a karyotype evolution pathway in the Microtus genus.

  10. Karyotype differentiation of four Cestrum species (Solanaceae) revealed by fluorescent chromosome banding and FISH.

    PubMed

    Fernandes, Thiago; de Almeida Rego, Letícia do Nascimento Andrade; Nardy, Mariana; Yuyama, Priscila Mary; Vanzela, André Luís Laforga

    2009-04-01

    The karyotypes of four South American species of Cestrum (C. capsulare,C. corymbosum,C. laevigatum and C. megalophylum) were studied using conventional staining, C-CMA/DAPI chromosome banding and FISH with 45S and 5S rDNA probes. The karyotypes showed a chromosome number of 2n = 2x = 16, with metacentric chromosomes, except for the eighth submeta- to acrocentric pair. Several types of heterochromatin were detected, which varied in size, number, distribution and base composition. The C-CMA(+) bands and 45S rDNA were located predominantly in terminal regions. The C-CMA (+) /DAPI (+) bands appeared in interstitial and terminal regions, and the C-DAPI (+) bands were found in all chromosome regions. The 5S rDNA sites were observed on the long arm of pair 8 in all species except C. capsulare, where they were found in the paracentromeric region of the long arm of pair 4. The differences in band patterns among the species studied here, along with data from other nine species reported in the literature, suggest that the bands are dispersed in an equilocal and non-equilocal manner and that structural rearrangements can be responsible for internal karyotype diversification. However, it is important to point out that the structural changes involving repetitive segments did not culminate in substantial changes in the general karyotype structure concerning chromosome size and morphology.

  11. Karyotype variation is indicative of subgenomic and ecotypic differentiation in switchgrass

    USDA-ARS?s Scientific Manuscript database

    A cytogenetic study was conducted on a dihaploid individual (2n'='2X'='18) of switchgrass to establish a chromosome karyotype. Size differences, condensation patterns, and arm-length ratios were used as identifying features and fluorescence in-situ hybridization (FISH) assigned 5S and 45S rDNA loci...

  12. Karyotypic evolution of the family Sciuridae: inferences from the genome organizations of ground squirrels.

    PubMed

    Li, T; Wang, J; Su, W; Nie, W; Yang, F

    2006-01-01

    Cross-species chromosome painting has made a great contribution to our understanding of the evolution of karyotypes and genome organizations of mammals. Several recent papers of comparative painting between tree and flying squirrels have shed some light on the evolution of the family Sciuridae and the order Rodentia. In the present study we have extended the comparative painting to the Himalayan marmot (Marmotahimalayana) and the African ground squirrel (Xerus cf. erythropus), i.e. representative species from another important squirrel group--the ground squirrels--, and have established genome-wide comparative chromosome maps between human, eastern gray squirrel, and these two ground squirrels. The results show that 1) the squirrels so far studied all have conserved karyotypes that resemble the ancestral karyotype of the order Rodentia; 2) the African ground squirrels could have retained the ancestral karyotype of the family Sciuridae. Furthermore, we have mapped the evolutionary rearrangements onto a molecular-based consensus phylogenetic tree of the family Sciuridae. 2006 S. Karger AG, Basel.

  13. [Effect of laminin on numerical karyotype variability of kangaroo rat kidney cell lines].

    PubMed

    Polianskaia, G G; Goriachaia, T S; Mikhaĭlova, N A; Pinaev, G P

    2003-01-01

    The numerical karyotypic variability has been investigated in "markerless" epithelial-like Rat kangaroo kidney cell lines NBL-3-11 and NBL-3-17 on cultivation on a laminin-2/4 coated surface. In cell line NBL-3-17, cultivated on the laminin-coated surface for 2, 4 and 12 days, the character of numerical karyotypic variability has changed. In 2 days the general character of cell distribution for the chromosome number did not change, but the frequency of cells with modal number of chromosomes decreases significantly, while that of cells with lower chromosome number show a tendency to increase. At a prolongation of cultivation time to 4 and 12 days, the numerical karyotypic heterogeneity in cell population increases due to a significant change in the general character of cell distribution for the chromosome number, which is caused by a significant decrease in the frequency of cells with the modal number of chromosomes, and by an increase in the frequency of cells with lower chromosome number. The analysis of distribution of individual chromosomes showed that the number of types of additional structural variants of the karyotype (SVK) increases significantly on cultivation on laminin for 2-12 days. In cell line NBL-3-11, cultivated on the laminin-coated surface for 2 and 4 days, the character of numerical karyotypic variability did not change compared to control variants. Possible reasons of the observed changes of numerical karyotypic variability in cell line NBL-3-17 is discussed. The reason of differences in the character of numerical karyotypic variability between cell lines NBL-3-11 and NBL-3-17 possibly consists in the change of gene expression, namely in a dose of certain functioning genes. The polymerase chain reaction with arbitrary primers revealed no differences between DNA patterns of cell lines NBL-3-17 and NBL-3-11. This can reflect a similarity in the primary DNA structure of both cell lines. Hence, these lines differ only in the number of homologous

  14. Normal clotting.

    PubMed

    Moran, Theresa A; Viele, Carol S

    2005-11-01

    To review the normal coagulation process and the mechanisms that lead to abnormal clotting. Primary and tertiary literature and the authors' clinical experience. The process of coagulation is complex and can be easily misunderstood. It is important to be familiar with normal coagulation before one can comprehend the coagulopathies associated with malignancies. A thorough understanding of the coagulation process is a critical prerequisite to caring for patients with clotting disorders. Once the normal clotting process is understood, the abnormal becomes easier to recognize and the cancer-associated dysfunctions more readily identified.

  15. Karyotype variation is indicative of subgenomic and ecotypic differentiation in switchgrass

    PubMed Central

    2012-01-01

    Background Karyotypes can provide information about taxonomic relationships, genetic aberrations, and the evolutionary origins of species. However, differentiation of the tiny chromosomes of switchgrass (Panicum virgatum L.) and creation of a standard karyotype for this bioenergy crop has not been accomplished due to lack of distinguishing features and polyploidy. Results A cytogenetic study was conducted on a dihaploid individual (2n = 2X = 18) of switchgrass to establish a chromosome karyotype. Size differences, condensation patterns, and arm-length ratios were used as identifying features and fluorescence in-situ hybridization (FISH) assigned 5S and 45S rDNA loci to chromosomes 7 and 2 respectively. Both a maize CentC and a native switchgrass centromeric repeat (PviCentC) that shared 73% sequence identity demonstrated a strong signal on chromosome 3. However, only the PviCentC probe labeled the centromeres of all chromosomes. Unexpected PviCentC and 5S rDNA hybidization patterns were consistent with severe reduction or total deletion of these repeats in one subgenome. These patterns were maintained in tetraploid and octoploid individuals. The 45S rDNA repeat produced the expected number of loci in dihaploid, tetraploid and octoploid individuals. Differences observed at the 5S rDNA loci between the upland and lowland ecotypes of switchgrass provided a basis for distinguishing these subpopulations. Conclusion Collectively, these results provide a quantitative karyotype of switchgrass chromosomes. FISH analyses indicate genetic divergence between subgenomes and allow for the classification of switchgrass plants belonging to divergent genetic pools. Furthermore, the karyotype structure and cytogenetic analysis of switchgrass provides a framework for future genetic and genomic studies. PMID:22834676

  16. Karyotypic similarities between two species of Rhamphichthys (Rhamphichthyidae, Gymnotiformes) from the Amazon basin.

    PubMed

    da Silva, Patrícia Corrêa; Nagamachi, Cleusa Yoshiko; Silva, Danillo Dos Santos; Milhomem, Susana Suely Rodrigues; Cardoso, Adauto Lima; de Oliveira, Jonas Alves; Pieczarka, Julio Cesar

    2013-10-24

    The family Rhamphichthyidae includes three genera: Rhamphichthys Müller et Troschel, 1846, Gymnorhamphichthys M. M. Ellis, 1912 and Iracema Triques, 1996. From this family, only the species Rhamphichthys hanni Meinken, 1937 has had its karyotype described. Here, we describe the karyotypes of two additional Rhamphichthys species: Rhamphichthys marmoratus Castelnau, 1855 from the Reserva de Desenvolvimento Sustentável Mamirauá, Amazonas state and Rhamphichthys prope rostratus Linnaeus, 1766 from Pará state, both in Brazil. Our karyotypic analyses demonstrated that the diploid number is conserved for the genus (2n = 50), but the karyotypic formulas (KFs) differed between Rhamphichthys marmoratus (44m/sm+6a) and Rhamphichthys prope rostratus (42m/sm+8a). In both species, the constitutive heterochromatin (CH) was located in the centromeric region of most chromosomes. Large heterochromatic blocks were found on the long arms of pairs 4 and 14 in Rhamphichthys marmoratus and on chromosomes 3, 4 and 19 in Rhamphichthys prope rostratus, which also has a heteromorphism in chromosome pair 1. The CH was DAPI positive, indicating that it is rich in AT base pairs. The Nucleolus Organizer Region (NOR) showed staining at a single location in both species: the long arm of pair 1 in Rhamphichthys marmoratus and the long arm of pair 12 in Rhamphichthys prope rostratus, where it showed a size heteromorphism. CMA3 staining coincided with that of Ag-NOR, indicating that the ribosomal genes contain interspaced GC-rich sequences. FISH with an 18S rDNA probe confirmed that there is only one NOR site in each species. These results can be used as potential cytogenetic markers for fish populations, and comparative analysis of the karyotypes of Hypopygus Hoedman, 1962, Rhamphichthys and Steatogenys Boulenger, 1898 suggests that the first two genera diverged later that the third.

  17. Karyotypic similarities between two species of Rhamphichthys (Rhamphichthyidae, Gymnotiformes) from the Amazon basin

    PubMed Central

    da Silva, Patrícia Corrêa; Nagamachi, Cleusa Yoshiko; Silva, Danillo dos Santos; Milhomem, Susana Suely Rodrigues; Cardoso, Adauto Lima; de Oliveira, Jonas Alves; Pieczarka, Julio Cesar

    2013-01-01

    Abstract The family Rhamphichthyidae includes three genera: Rhamphichthys Müller et Troschel, 1846, Gymnorhamphichthys M. M. Ellis, 1912 and Iracema Triques, 1996. From this family, only the species Rhamphichthys hanni Meinken, 1937 has had its karyotype described. Here, we describe the karyotypes of two additional Rhamphichthys species: Rhamphichthys marmoratus Castelnau, 1855 from the Reserva de Desenvolvimento Sustentável Mamirauá, Amazonas state and Rhamphichthys prope rostratus Linnaeus, 1766 from Pará state, both in Brazil. Our karyotypic analyses demonstrated that the diploid number is conserved for the genus (2n = 50), but the karyotypic formulas (KFs) differed between Rhamphichthys marmoratus (44m/sm+6a) and Rhamphichthys prope rostratus (42m/sm+8a). In both species, the constitutive heterochromatin (CH) was located in the centromeric region of most chromosomes. Large heterochromatic blocks were found on the long arms of pairs 4 and 14 in Rhamphichthys marmoratus and on chromosomes 3, 4 and 19 in Rhamphichthys prope rostratus, which also has a heteromorphism in chromosome pair 1. The CH was DAPI positive, indicating that it is rich in AT base pairs. The Nucleolus Organizer Region (NOR) showed staining at a single location in both species: the long arm of pair 1 in Rhamphichthys marmoratus and the long arm of pair 12 in Rhamphichthys prope rostratus, where it showed a size heteromorphism. CMA3 staining coincided with that of Ag-NOR, indicating that the ribosomal genes contain interspaced GC-rich sequences. FISH with an 18S rDNA probe confirmed that there is only one NOR site in each species. These results can be used as potential cytogenetic markers for fish populations, and comparative analysis of the karyotypes of Hypopygus Hoedman, 1962, Rhamphichthys and Steatogenys Boulenger, 1898 suggests that the first two genera diverged later that the third. PMID:24455102

  18. PCR-based karyotyping of Anopheles gambiae inversion 2Rj identifies the BAMAKO chromosomal form.

    PubMed

    Coulibaly, Mamadou B; Pombi, Marco; Caputo, Beniamino; Nwakanma, Davis; Jawara, Musa; Konate, Lassana; Dia, Ibrahima; Fofana, Abdrahamane; Kern, Marcia; Simard, Frédéric; Conway, David J; Petrarca, Vincenzo; della Torre, Alessandra; Traoré, Sékou; Besansky, Nora J

    2007-10-01

    The malaria vector Anopheles gambiae is polymorphic for chromosomal inversions on the right arm of chromosome 2 that segregate nonrandomly between assortatively mating populations in West Africa. One such inversion, 2Rj, is associated with the BAMAKO chromosomal form endemic to southern Mali and northern Guinea Conakry near the Niger River. Although it exploits a unique ecology and both molecular and chromosomal data suggest reduced gene flow between BAMAKO and other A. gambiae populations, no molecular markers exist to identify this form. To facilitate study of the BAMAKO form, a PCR assay for molecular karyotyping of 2Rj was developed based on sequences at the breakpoint junctions. The assay was extensively validated using more than 700 field specimens whose karyotypes were determined in parallel by cytogenetic and molecular methods. As inversion 2Rj also occurs in SAVANNA populations outside the geographic range of BAMAKO, samples were tested from Senegal, Cameroon and western Guinea Conakry as well as from Mali. In southern Mali, where 2Rj polymorphism in SAVANNA populations was very low and most of the 2Rj homozygotes were found in BAMAKO karyotypes, the molecular and cytogenetic methods were almost perfectly congruent. Elsewhere agreement between the methods was much poorer, as the molecular assay frequently misclassified 2Rj heterozygotes as 2R+j standard homozygotes. Molecular karyotyping of 2Rj is robust and accurate on 2R+j standard and 2Rj inverted homozygotes. Therefore, the proposed approach overcomes the lack of a rapid tool for identifying the BAMAKO form across developmental stages and sexes, and opens new perspectives for the study of BAMAKO ecology and behaviour. On the other hand, the method should not be applied for molecular karyotyping of j-carriers within the SAVANNA chromosomal form.

  19. PCR-based karyotyping of Anopheles gambiae inversion 2Rj identifies the BAMAKO chromosomal form

    PubMed Central

    Coulibaly, Mamadou B; Pombi, Marco; Caputo, Beniamino; Nwakanma, Davis; Jawara, Musa; Konate, Lassana; Dia, Ibrahima; Fofana, Abdrahamane; Kern, Marcia; Simard, Frédéric; Conway, David J; Petrarca, Vincenzo; Torre, Alessandra della; Traoré, Sékou; Besansky, Nora J

    2007-01-01

    Background The malaria vector Anopheles gambiae is polymorphic for chromosomal inversions on the right arm of chromosome 2 that segregate nonrandomly between assortatively mating populations in West Africa. One such inversion, 2Rj, is associated with the BAMAKO chromosomal form endemic to southern Mali and northern Guinea Conakry near the Niger River. Although it exploits a unique ecology and both molecular and chromosomal data suggest reduced gene flow between BAMAKO and other A. gambiae populations, no molecular markers exist to identify this form. Methods To facilitate study of the BAMAKO form, a PCR assay for molecular karyotyping of 2Rj was developed based on sequences at the breakpoint junctions. The assay was extensively validated using more than 700 field specimens whose karyotypes were determined in parallel by cytogenetic and molecular methods. As inversion 2Rj also occurs in SAVANNA populations outside the geographic range of BAMAKO, samples were tested from Senegal, Cameroon and western Guinea Conakry as well as from Mali. Results In southern Mali, where 2Rj polymorphism in SAVANNA populations was very low and most of the 2Rj homozygotes were found in BAMAKO karyotypes, the molecular and cytogenetic methods were almost perfectly congruent. Elsewhere agreement between the methods was much poorer, as the molecular assay frequently misclassified 2Rj heterozygotes as 2R+j standard homozygotes. Conclusion Molecular karyotyping of 2Rj is robust and accurate on 2R+j standard and 2Rj inverted homozygotes. Therefore, the proposed approach overcomes the lack of a rapid tool for identifying the BAMAKO form across developmental stages and sexes, and opens new perspectives for the study of BAMAKO ecology and behaviour. On the other hand, the method should not be applied for molecular karyotyping of j-carriers within the SAVANNA chromosomal form. PMID:17908310

  20. DeltaNp63alpha repression of the Notch1 gene supports the proliferative capacity of normal human keratinocytes and cervical cancer cells.

    PubMed

    Yugawa, Takashi; Narisawa-Saito, Mako; Yoshimatsu, Yuki; Haga, Kei; Ohno, Shin-ichi; Egawa, Nagayasu; Fujita, Masatoshi; Kiyono, Tohru

    2010-05-15

    The p53 family member p63 is a master regulator of epithelial development. One of its isoforms, DeltaNp63alpha, is predominantly expressed in the basal cells of stratified epithelia and plays a fundamental role in control of regenerative potential and epithelial integrity. In contrast to p53, p63 is rarely mutated in human cancers, but it is frequently overexpressed in squamous cell carcinomas (SCC). However, its functional relevance to tumorigenesis remains largely unclear. We previously identified the Notch1 gene as a novel transcriptional target of p53. Here, we show that DeltaNp63alpha functions as a transcriptional repressor of the Notch1 gene through the p53-responsive element. Knockdown of p63 caused upregulation of Notch1 expression and marked reduction in proliferation and clonogenicity of both normal human keratinocytes and cervical cancer cell lines overexpressing DeltaNp63alpha. Concomitant silencing of Notch1 significantly rescued this phenotype, indicating the growth defect induced by p63 deficiency to be, at least in part, attributable to Notch1 function. Conversely, overexpression of DeltaNp63alpha decreased basal levels of Notch1, increased proliferative potential of normal human keratinocytes, and inhibited both p53-dependent and p53-independent induction of Notch1 and differentiation markers upon genotoxic stress and serum exposure, respectively. These results suggest that DeltaNp63alpha maintains the self-renewing capacity of normal human keratinocytes and cervical cancer cells partly through transcriptional repression of the Notch1 gene and imply a novel pathogenetical significance of frequently observed overexpression of DeltaNp63alpha together with p53 inactivation in SCCs.

  1. Bingo! Externally-Supported Performance Intervention for Deficient Visual Search in Normal Aging, Parkinson’s Disease and Alzheimer’s Disease

    PubMed Central

    Laudate, Thomas M.; Neargarder, Sandy; Dunne, Tracy E.; Sullivan, Karen D.; Joshi, Pallavi; Gilmore, Grover C.; Riedel, Tatiana M.; Cronin-Golomb, Alice

    2011-01-01

    External support may improve task performance regardless of an individual’s ability to compensate for cognitive deficits through internally-generated mechanisms. We investigated if performance of a complex, familiar visual search task (the game of bingo) could be enhanced in groups with suboptimal vision by providing external support through manipulation of task stimuli. Participants were 19 younger adults, 14 individuals with probable Alzheimer’s disease (AD), 13 AD-matched healthy adults, 17 non-demented individuals with Parkinson’s disease (PD), and 20 PD-matched healthy adults. We varied stimulus contrast, size, and visual complexity during game play. The externally-supported performance interventions of increased stimulus size and decreased complexity resulted in improvements in performance by all groups. Performance improvement through increased stimulus size and decreased complexity was demonstrated by all groups. AD also obtained benefit from increasing contrast, presumably by compensating for their contrast sensitivity deficit. The general finding of improved performance across healthy and afflicted groups suggests the value of visual support as an easy-to-apply intervention to enhance cognitive performance. PMID:22066941

  2. [Craniometric differences between karyotypic races of the common shrew Sorex araneus (Mammalia) as a result of limited hybridization].

    PubMed

    Orlov, V N; Sycheva, V B; Cherepanova, E V; Borisov, Iu M

    2013-04-01

    The contact points of four karyotypic races (St. Petersburg, Moscow, Seliger and West Dvina) of the common shrew Sorex araneus L. were studied at the Valdai Hills (European Russia) in an area unimpeded by geographic barriers. The populations of the races are separated by narrow hybrid zones that represent the most complex heterozygous hybrid karyotypes. At these points of contact, the morphometric differentiation of karyotype races was examined in 12 cranial measurements in 190 shrews of a known karyotype. A. comparison of the mean values in studied samples of immature shrews revealed statistically significant differences and the correlation of some measurements in order to describe the level of musculus temporalis. It has been proposed that morphometric differences in the karyotypic races were preserved and accumulated because of a 50% reduction of the frequencies of hybrids. The deviation from the Hardy-Weinberg ration in the frequencies of the genotype and haploid sets of chromosomes in the hybrid zones can be attributed to a number of fatalities of hybrid embryos or the nonrandom mating of karyotypic races. The ethological isolation might arise in the evolution of some karyotypic races from the reduced fitness of the hybrids.

  3. Meiotic abnormalities in metaphase I human spermatocytes from infertile males: frequencies, chromosomes involved, and the relationships with polymorphic karyotype and seminal parameters.

    PubMed

    Sarrate, Zaida; Vidal, Francesca; Blanco, Joan

    2014-01-01

    The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this purpose, a total of 31 testicular tissue samples from individuals consulting for fertility problems were analyzed. Metaphase I cells were evaluated using a sequential methodology combining Leishman stained procedures and multiplex fluorescence in situ hybridization protocols. The number of chromosomal units and chiasmata count per bivalent were established and a hierarchical cluster analysis of the individuals was performed. The relationship of the seminogram and the karyotype over recombination were evaluated using Poisson regression models. Results obtained in this study show a significant percentage of infertile individuals with altered meiotic behavior, mostly specified as a reduction in chiasmata count in medium and large chromosomes, the presence of univalents, and the observation of tetraploid metaphases. Moreover, the number and the type of anomalies were found to be different between cells of the same individual, suggesting the coexistence of cell lines with normal meiotic behavior and cell lines with abnormalities. In addition, chromosomal abnormalities in metaphase I are significantly associated with oligozoospermia and/or polymorphic karyotype variants.

  4. Meiotic abnormalities in metaphase I human spermatocytes from infertile males: frequencies, chromosomes involved, and relationship with polymorphic karyotype and seminal parameters

    PubMed Central

    Sarrate, Zaida; Vidal, Francesca; Blanco, Joan

    2014-01-01

    The aim of this study was to look in depth at the relationship between meiotic anomalies and male infertility, such as the determination of the chromosomes involved or the correlation with patient features. For this purpose, a total of 31 testicular tissue samples from individuals consulting for fertility problems were analyzed. Metaphase I cells were evaluated using a sequential methodology combining Leishman stained procedures and multiplex fluorescence in situ hybridization protocols. The number of chromosomal units and chiasmata count per bivalent were established and a hierarchical cluster analysis of the individuals was performed. The relationship of the seminogram and the karyotype over recombination were evaluated using Poisson regression models. Results obtained in this study show a significant percentage of infertile individuals with altered meiotic behavior, mostly specified as a reduction in chiasmata count in medium and large chromosomes, the presence of univalents, and the observation of tetraploid metaphases. Moreover, the number and the type of anomalies were found to be different between cells of the same individual, suggesting the coexistence of cell lines with normal meiotic behavior and cell lines with abnormalities. In addition, chromosomal abnormalities in metaphase I are significantly associated with oligozoospermia and/or polymorphic karyotype variants. PMID:25080930

  5. Complex, compound inversion/translocation polymorphism in an ape: presumptive intermediate stage in the karyotypic evolution of the agile gibbon Hylobates agilis.

    PubMed

    Van Tuinen, P; Mootnick, A R; Kingswood, S C; Hale, D W; Kumamoto, A T

    1999-10-01

    Karyotypic variation in five gibbon species of the subgenus Hylobates (2n = 44) was assessed in 63 animals, 23 of them wild born. Acquisition of key specimens of Hylobates agilis (agile gibbon), whose karyotype had been problematic due to unresolved structural polymorphisms, led to disclosure of a compound inversion/translocation polymorphism. A polymorphic region of chromosome 8 harboring two pericentric inversions, one nested within the other, was in turn bissected by one breakpoint of a reciprocal translocation. In double-inversion + translocation heterozygotes, the theoretical meiotic pairing configuration is a double inversion loop, with four arms of a translocation quadrivalent radiating from the loop. Electron-microscopic analysis of synaptonemal complex configurations consistently revealed translocation quadrivalents but no inversion loops. Rather, nonhomologous pairing was evident in the inverted region, a condition that should preclude crossing over and the subsequent production of duplication-deficiency gametes. This is corroborated by the existence of normal offspring of compound heterozygotes, indicating that fertility may not be reduced despite the topological complexity of this polymorphic system. The distribution of inversion and translocation morphs in these taxa suggests application of cytogenetics in identifying gibbon specimens and avoiding undesirable hybridization in captive breeding efforts.

  6. Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities

    PubMed Central

    Gekas, Jean; van den Berg, David-Gradus; Durand, Audrey; Vallée, Maud; Wildschut, Hajo Izaäk Johannes; Bujold, Emmanuel; Forest, Jean-Claude; Rousseau, François; Reinharz, Daniel

    2011-01-01

    In all, 80% of antenatal karyotypes are generated by Down's syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR)) can detect common aneuploidies, and are faster and less expensive than karyotyping. In the UK, RAD is recommended as a standalone approach in DSSP, whereas the US guidelines recommend that RAD be followed up by karyotyping. A cost-effectiveness (CE) analysis of RAD in various DSSP is lacking. There is a debate over the significance of chromosome abnormalities (CA) detected with karyotyping but not using RAD. Our objectives were to compare the CE of RAD versus karyotyping, to evaluate the clinically significant missed CA and to determine the impact of detecting the missed CA. We performed computer simulations to compare six screening options followed by FISH, PCR or karyotyping using a population of 110 948 pregnancies. Among the safer screening strategies, the most cost-effective strategy was contingent screening with QF-PCR (CE ratio of $24 084 per Down's syndrome (DS) detected). Using karyotyping, the CE ratio increased to $27 898. QF-PCR missed only six clinically significant CA of which only one was expected to confer a high risk of an abnormal outcome. The incremental CE ratio (ICER) to find the CA missed by RAD was $66 608 per CA. These costs are much higher than those involved for detecting DS cases. As the DSSP are mainly designed for DS detection, it may be relevant to question the additional costs of karyotyping. PMID:20842178

  7. Rapid testing versus karyotyping in Down's syndrome screening: cost-effectiveness and detection of clinically significant chromosome abnormalities.

    PubMed

    Gekas, Jean; van den Berg, David-Gradus; Durand, Audrey; Vallée, Maud; Wildschut, Hajo Izaäk Johannes; Bujold, Emmanuel; Forest, Jean-Claude; Rousseau, François; Reinharz, Daniel

    2011-01-01

    In all, 80% of antenatal karyotypes are generated by Down's syndrome screening programmes (DSSP). After a positive screening, women are offered prenatal foetus karyotyping, the gold standard. Reliable molecular methods for rapid aneuploidy diagnosis (RAD: fluorescence in situ hybridization (FISH) and quantitative fluorescence PCR (QF-PCR)) can detect common aneuploidies, and are faster and less expensive than karyotyping.In the UK, RAD is recommended as a standalone approach in DSSP, whereas the US guidelines recommend that RAD be followed up by karyotyping. A cost-effectiveness (CE) analysis of RAD in various DSSP is lacking. There is a debate over the significance of chromosome abnormalities (CA) detected with karyotyping but not using RAD. Our objectives were to compare the CE of RAD versus karyotyping, to evaluate the clinically significant missed CA and to determine the impact of detecting the missed CA. We performed computer simulations to compare six screening options followed by FISH, PCR or karyotyping using a population of 110948 pregnancies. Among the safer screening strategies, the most cost-effective strategy was contingent screening with QF-PCR (CE ratio of $24084 per Down's syndrome (DS) detected). Using karyotyping, the CE ratio increased to $27898. QF-PCR missed only six clinically significant CA of which only one was expected to confer a high risk of an abnormal outcome. The incremental CE ratio (ICER) to find the CA missed by RAD was $66608 per CA. These costs are much higher than those involved for detecting DS cases. As the DSSP are mainly designed for DS detection, it may be relevant to question the additional costs of karyotyping.

  8. "Not just a normal mum": a qualitative investigation of a support service for women who are pregnant subsequent to perinatal loss.

    PubMed

    Meredith, Pamela; Wilson, Trish; Branjerdporn, Grace; Strong, Jenny; Desha, Laura

    2017-01-05

    Following previous perinatal loss, women in a subsequent pregnancy may experience heightened emotions, such as anxiety and fear, with a range of longer-term implications. To support these women, the Mater Mothers' Bereavement Support Service in Brisbane, Australia, developed a Pregnancy After Loss Clinic (PALC) as a specialised hospital-based service. The present study investigated the experiences of mothers with previous perinatal loss in relation to: (a) their subsequent pregnancy-to-birth journey, and (b) the PALC service. Such research seeks to inform the ongoing development of effective perinatal services. A qualitative interview-based research design was employed with a purposive sample of 10 mothers who had previously experienced perinatal loss and who attended the Mater Mothers' PALC during their subsequent pregnancy in 2015. All mothers had subsequently delivered a live baby and were in a relationship with the father of the new baby. Women were aged between 22 and 39 years, primiparous or multiparous, and from a range of cultural backgrounds. Semi-structured interviews, conducted either at the hospital or by telephone by an experienced, independent researcher, lasted between 20 min and one hour. All interviews were audio-recorded and transcribed verbatim, with participant names changed. Interviews were analysed using content analysis by two researchers who were not involved in the service delivery or data gathering process. Seven themes were identified from the interview material: The overall experience, The unique experience of first pregnancy after loss, Support from PALC, Experiences of other services, Recommendations for PALC services, Need for alternative services, and Advice: Mother to mother. Participants spoke positively of the PALC services for themselves and their families. Anxieties over their subsequent pregnancy, and the desire for other health professionals to be more understanding were frequently raised. Recommendations were made to extend

  9. [The species and karyotype composition of malaria mosquito larvae in different water reservoirs of the city of Moscow].

    PubMed

    Tanygina, E Iu; Gordeev, M I; Moskaev, A V; Ganushkina, L A

    2014-01-01

    The species and karyotype composition of malaria mosquito larvae was investigated in different water reservoirs of the city of Moscow. Cytogenetic analysis identified 2 malaria mosquito species: An. maculipennis Mg and An. messeae Fall. An. messeae was predominant in all the biotopes studied. The proportion of An. maculipennis varied from 0 to 23.8% and averaged 6.27%. An. messeae larvae were found to have chromosomal polymorphism. Individual local An. messeae populations having a definite, historically established, time and space resistant karyotype structure were shown to form in Moscow. The resistance of the karyotype structure of the populations was provided by reversible fluctuations in the rate of chromosomal inversions.

  10. Three new karyotypes extend a Robertsonian fan in Ethiopian spiny mice of the genus Acomys I. Geoffroy, 1838 (Mammalia, Rodentia).

    PubMed

    Lavrenchenko, L A; Nadjafova, R S; Bulatova, N Sh

    2011-01-01

    Three new karyotypes (2n=40, 44, 52) are described revealing what are probably new cryptic species of Ethiopian spiny mice. Two other diploid numbers have already been reported for the country (2n=36 and 68) and, overall, the five known karyotypic forms constitute a common lineage differentiated by a Robertsonian process. Such arrays of karyotypic forms are known as a 'Robertsonian fan'. This view of the situation in Ethiopian Acomys I. Geoffroy, 1838 is based on standard chromosomal morphology that reveals a constant FN (68) and needs further investigation of chromosome homology by differential staining and/or molecular cytogenetic techniques as well as further molecular phylogenetic analysis.

  11. Mist1 Expressing Gastric Stem Cells Maintain the Normal and Neoplastic Gastric Epithelium and Are Supported by a Perivascular Stem Cell Niche.

    PubMed

    Hayakawa, Yoku; Ariyama, Hiroshi; Stancikova, Jitka; Sakitani, Kosuke; Asfaha, Samuel; Renz, Bernhard W; Dubeykovskaya, Zinaida A; Shibata, Wataru; Wang, Hongshan; Westphalen, Christoph B; Chen, Xiaowei; Takemoto, Yoshihiro; Kim, Woosook; Khurana, Shradha S; Tailor, Yagnesh; Nagar, Karan; Tomita, Hiroyuki; Hara, Akira; Sepulveda, Antonia R; Setlik, Wanda; Gershon, Michael D; Saha, Subhrajit; Ding, Lei; Shen, Zeli; Fox, James G; Friedman, Richard A; Konieczny, Stephen F; Worthley, Daniel L; Korinek, Vladimir; Wang, Timothy C

    2015-12-14

    The regulation and stem cell origin of normal and neoplastic gastric glands are uncertain. Here, we show that Mist1 expression marks quiescent stem cells in the gastric corpus isthmus. Mist1(+) stem cells serve as a cell-of-origin for intestinal-type cancer with the combination of Kras and Apc mutation and for diffuse-type cancer with the loss of E-cadherin. Diffuse-type cancer development is dependent on inflammation mediated by Cxcl12(+) endothelial cells and Cxcr4(+) gastric innate lymphoid cells (ILCs). These cells form the perivascular gastric stem cell niche, and Wnt5a produced from ILCs activates RhoA to inhibit anoikis in the E-cadherin-depleted cells. Targeting Cxcr4, ILCs, or Wnt5a inhibits diffuse-type gastric carcinogenesis, providing targets within the neoplastic gastric stem cell niche.

  12. Karyotypes of some medium-sized Dytiscidae (Agabinae and Colymbetinae) (Coleoptera)

    PubMed Central

    Angus, Robert B.; Clery, Molly J.; Carter, Jodie C.; Wenczek, Daniel E.

    2013-01-01

    Abstract An account is given of the karyotypes of 29 species of medium sized Dytiscidae (Coleoptera). Of the 20 species of Agabus Leach, 1817, 18 have karyotypes comprising 21 pairs of autosomes and sex chromosomes which are either X0(♂) or XX (♀). These species are Agabus serricornis (Paykull, 1799), Agabus labiatus (Brahm, 1791), Agabus congener (Thunberg, 1794), Agabus lapponicus (Thomson, 1867), Agabus thomsoni (J. Sahlberg, 1871), Agabus confinis (Gyllenhal, 1808), Agabus sturmii (Gyllenhal, 1808), Agabus bipustulatus (Linnaeus, 1767), Agabus nevadensis Håkan Lindberg, 1939, Agabus wollastoni Sharp, 1882, Agabus melanarius Aubé, 1837, Agabus biguttatus (Olivier, 1795), Agabus binotatus Aubé, 1837, Agabus affinis (Paykull, 1798), Agabus unguicularis (Thomson, 1867), Agabus ramblae Millan & Ribera, 2001, Agabus conspersus (Marsham, 1802) and Agabus nebulosus (Forster, 1771). However two species, Agabus infuscatus Aubé, 1838 and Agabus adpressus Aubé, 1837, have developed a neo-XY system, with karyotypes comprising 21 pairs of autosomes and XY sex chromosomes (♂). No chromosomal differences have been detected between typical Agabus bipustulatus and Agabus bipustulatus var. solieri Aubé, 1837, nor have any been found between the three species of the Agabus bipustulatus complex (Agabus bipustulatus, Agabus nevadensis and Agabus wollastoni). The four species of Colymbetes Clairville, 1806, Colymbetes fuscus (Linnaeus, 1758), Colymbetes paykulli Erichson, 1837, Colymbetes piceus Klug, 1834 and Colymbetes striatus (Linnaeus, 1758) have karyotypes comprising 20 pairs of autosomes and sex chromosomes which are X0 (♂), XX (♀). Two of the species of Rhantus Dejean, 1833, Rhantus exsoletus (Forster, 1771) and Rhantus suturellus (Harris, 1828) have karyotypes comprising 20 pairs of autosomes and X0/XX sex chromosomes, but the other three species, Rhantus grapii (Gyllenhal, 1808), Rhantus frontalis (Marsham, 1802) and Rhantus suturalis (Macleay, 1825) have 22

  13. Karyotypes of some medium-sized Dytiscidae (Agabinae and Colymbetinae) (Coleoptera).

    PubMed

    Angus, Robert B; Clery, Molly J; Carter, Jodie C; Wenczek, Daniel E

    2013-01-01

    An account is given of the karyotypes of 29 species of medium sized Dytiscidae (Coleoptera). Of the 20 species of Agabus Leach, 1817, 18 have karyotypes comprising 21 pairs of autosomes and sex chromosomes which are either X0(♂) or XX (♀). These species are Agabus serricornis (Paykull, 1799), Agabus labiatus (Brahm, 1791), Agabus congener (Thunberg, 1794), Agabus lapponicus (Thomson, 1867), Agabus thomsoni (J. Sahlberg, 1871), Agabus confinis (Gyllenhal, 1808), Agabus sturmii (Gyllenhal, 1808), Agabus bipustulatus (Linnaeus, 1767), Agabus nevadensis Håkan Lindberg, 1939, Agabus wollastoni Sharp, 1882, Agabus melanarius Aubé, 1837, Agabus biguttatus (Olivier, 1795), Agabus binotatus Aubé, 1837, Agabus affinis (Paykull, 1798), Agabus unguicularis (Thomson, 1867), Agabus ramblae Millan & Ribera, 2001, Agabus conspersus (Marsham, 1802) and Agabus nebulosus (Forster, 1771). However two species, Agabus infuscatus Aubé, 1838 and Agabus adpressus Aubé, 1837, have developed a neo-XY system, with karyotypes comprising 21 pairs of autosomes and XY sex chromosomes (♂). No chromosomal differences have been detected between typical Agabus bipustulatus and Agabus bipustulatus var. solieri Aubé, 1837, nor have any been found between the three species of the Agabus bipustulatus complex (Agabus bipustulatus, Agabus nevadensis and Agabus wollastoni). The four species of Colymbetes Clairville, 1806, Colymbetes fuscus (Linnaeus, 1758), Colymbetes paykulli Erichson, 1837, Colymbetes piceus Klug, 1834 and Colymbetes striatus (Linnaeus, 1758) have karyotypes comprising 20 pairs of autosomes and sex chromosomes which are X0 (♂), XX (♀). Two of the species of Rhantus Dejean, 1833, Rhantus exsoletus (Forster, 1771) and Rhantus suturellus (Harris, 1828) have karyotypes comprising 20 pairs of autosomes and X0/XX sex chromosomes, but the other three species, Rhantus grapii (Gyllenhal, 1808), Rhantus frontalis (Marsham, 1802) and Rhantus suturalis (Macleay, 1825) have 22 pairs of

  14. [The influence of immobilized fibronectin on karyotypic variability of two rat kangaroo kidney cell lines].

    PubMed

    Polianskaia, G G; Goriachaia, T S; Pinaev, G P

    2007-01-01

    The numerical and structural karyotypic variability has been investigated in "markerless" Rat kangaroo kidney cell lines NBL-3-17 and NBL-3-11 when cultivating on a fibronectin-coated surface. In cell line NBL-3-17, cultivated on the fibronectin-coated surface for 1, 2, 4 and 8 days, the character of cell distribution for the chromosome number has changed. These changes involve a significant decrease in frequency of cells with modal number of chromosomes, and an increase in frequency of cells with lower chromosomal number. Many new additional structural variants of the karyotype (SVK) appear. The observed alterations seem to be due preference adhesion of cells with lower chromosome number, disturbances of mitotic apparatus and selection of SVK, which are more adopted to changes in culture conditions. Detachment of cells from the fibronectin-coated surface, followed by 5 days cultivation on a hydrophilic surface restored control distribution. In cell line NBL-3-11, cultivated on the fibronectin-coated surface for 1, 2, 4 and 8 days, the character of numerical karyotypic variability did not change compared to control variants. In cell line NBL-3-17 the frequency of chromosomal aberrations under cultivation on the fibronectin-coated surface for 1, 2, 4 and 8 days did not change relative to control variants. In cell line NBL-3-11 the frequency of chromosomal aberrations under the same conditions significantly increases, mainly at the expence of chromosomal, chromatid breaks and dicentrics (telomeric association) relative to control variants. We discuss possible reasons of differences in the character of numerical and structural karyotypic variability between cell lines NBL-3-17 (hypotriploid) and NBL-3-11 (hypodiploid) under cultivation on fibronectin. The reasons of the observed interline karyotypic differences possibly consist in peculiarity of karyotypic structure of cell line NBL-3-11 and in the change of gene expression, namely in a dose of certain functioning

  15. Anionic polymers and 10 nm Fe₃O₄@UA wound dressings support human foetal stem cells normal development and exhibit great antimicrobial properties.

    PubMed

    Grumezescu, Alexandru Mihai; Holban, Alina Maria; Andronescu, Ecaterina; Mogoşanu, George Dan; Vasile, Bogdan Stefan; Chifiriuc, Mariana Carmen; Lazar, Veronica; Andrei, Eugen; Constantinescu, Andrei; Maniu, Horia

    2014-03-25

    The aims of this study were the development, characterization and bioevaluation of a novel biocompatible, resorbable and bio-active wound dressing prototype, based on anionic polymers (sodium alginate--AlgNa, carboximethylcellulose--CMC) and magnetic nanoparticles loaded with usnic acid (Fe₃O₄@UA). The antimicrobial activity was tested against Staphylococcus aureus grown in biofilms. The biocompatibility testing model included an endothelial cell line from human umbilical vein and human foetal progenitor cells derived from the amniotic fluid, that express a wide spectrum of surface molecules involved in different vascular functions and inflammatory response, and may be used as skin regenerative support. The obtained results demonstrated that CMC/Fe₃O₄@UA and AlgNa/Fe₃O₄@UA are exhibiting structural and functional properties that recommend them for further applications in the biomedical field. They could be used alone or coated with different bio-active compounds, such as Fe₃O₄@UA, for the development of novel, multifunctional porous materials used in tissues regeneration, as antimicrobial substances releasing devices, providing also a mechanical support for the eukaryotic cells adhesion, and exhibiting the advantage of low cytotoxicity on human progenitor cells. The great antimicrobial properties exhibited by the newly synthesized nano-bioactive coatings are recommending them as successful candidates for improving the implanted devices surfaces used in regenerative medicine.

  16. Multivariate normality

    NASA Technical Reports Server (NTRS)

    Crutcher, H. L.; Falls, L. W.

    1976-01-01

    Sets of experimentally determined or routinely observed data provide information about the past, present and, hopefully, future sets of similarly produced data. An infinite set of statistical models exists which may be used to describe the data sets. The normal distribution is one model. If it serves at all, it serves well. If a data set, or a transformation of the set, representative of a larger population can be described by the normal distribution, then valid statistical inferences can be drawn. There are several tests which may be applied to a data set to determine whether the univariate normal model adequately describes the set. The chi-square test based on Pearson's work in the late nineteenth and early twentieth centuries is often used. Like all tests, it has some weaknesses which are discussed in elementary texts. Extension of the chi-square test to the multivariate normal model is provided. Tables and graphs permit easier application of the test in the higher dimensions. Several examples, using recorded data, illustrate the procedures. Tests of maximum absolute differences, mean sum of squares of residuals, runs and changes of sign are included in these tests. Dimensions one through five with selected sample sizes 11 to 101 are used to illustrate the statistical tests developed.

  17. Karyotypic complexity rather than chromosome 8 abnormalities aggravates the outcome of chronic lymphocytic leukemia patients with TP53 aberrations.

    PubMed

    Blanco, Gonzalo; Puiggros, Anna; Baliakas, Panagiotis; Athanasiadou, Anastasia; García-Malo, MªDolores; Collado, Rosa; Xochelli, Aliki; Rodríguez-Rivera, María; Ortega, Margarita; Calasanz, Mª José; Luño, Elisa; Vargas, MªTeresa; Grau, Javier; Martínez-Laperche, Carolina; Valiente, Alberto; Cervera, José; Anagnostopoulos, Achilles; Gimeno, Eva; Abella, Eugènia; Stalika, Evangelia; Hernández-Rivas, Jesús Mª; Ortuño, Francisco José; Robles, Diego; Ferrer, Ana; Ivars, David; González, Marcos; Bosch, Francesc; Abrisqueta, Pau; Stamatopoulos, Kostas; Espinet, Blanca

    2016-12-06

    Patients with chronic lymphocytic leukemia (CLL) harboring TP53 aberrations (TP53abs; chromosome 17p deletion and/or TP53 mutation) exhibit an unfavorable clinical outcome. Chromosome 8 abnormalities, namely losses of 8p (8p-) and gains of 8q (8q+) have been suggested to aggravate the outcome of patients with TP53abs. However, the reported series were small, thus hindering definitive conclusions. To gain insight into this issue, we assessed a series of 101 CLL patients harboring TP53 disruption. The frequency of 8p- and 8q+ was 14.7% and 17.8% respectively. Both were associated with a significantly (P < 0.05) higher incidence of a complex karyotype (CK, ≥3 abnormalities) detected by chromosome banding analysis (CBA) compared to cases with normal 8p (N-8p) and 8q (N-8q), respectively. In univariate analysis for 10-year overall survival (OS), 8p- (P = 0.002), 8q+ (P = 0.012) and CK (P = 0.009) were associated with shorter OS. However, in multivariate analysis only CK (HR = 2.47, P = 0.027) maintained independent significance, being associated with a dismal outcome regardless of chromosome 8 abnormalities. In conclusion, our results highlight the association of chromosome 8 abnormalities with CK amongst CLL patients with TP53abs, while also revealing that CK can further aggravate the prognosis of this aggressive subgroup.

  18. Karyotypic complexity rather than chromosome 8 abnormalities aggravates the outcome of chronic lymphocytic leukemia patients with TP53 aberrations

    PubMed Central

    Blanco, Gonzalo; Puiggros, Anna; Baliakas, Panagiotis; Athanasiadou, Anastasia; García-Malo, MªDolores; Collado, Rosa; Xochelli, Aliki; Rodríguez-Rivera, María; Ortega, Margarita; Calasanz, Mª José; Luño, Elisa; Vargas, MªTeresa; Grau, Javier; Martínez-Laperche, Carolina; Valiente, Alberto; Cervera, José; Anagnostopoulos, Achilles; Gimeno, Eva; Abella, Eugènia; Stalika, Evangelia; Hernández-Rivas, Jesús Mª; Ortuño, Francisco José; Robles, Diego; Ferrer, Ana; Ivars, David; González, Marcos; Bosch, Francesc; Abrisqueta, Pau; Stamatopoulos, Kostas; Espinet, Blanca

    2016-01-01

    Patients with chronic lymphocytic leukemia (CLL) harboring TP53 aberrations (TP53abs; chromosome 17p deletion and/or TP53 mutation) exhibit an unfavorable clinical outcome. Chromosome 8 abnormalities, namely losses of 8p (8p−) and gains of 8q (8q+) have been suggested to aggravate the outcome of patients with TP53abs. However, the reported series were small, thus hindering definitive conclusions. To gain insight into this issue, we assessed a series of 101 CLL patients harboring TP53 disruption. The frequency of 8p− and 8q+ was 14.7% and 17.8% respectively. Both were associated with a significantly (P < 0.05) higher incidence of a complex karyotype (CK, ≥3 abnormalities) detected by chromosome banding analysis (CBA) compared to cases with normal 8p (N-8p) and 8q (N-8q), respectively. In univariate analysis for 10-year overall survival (OS), 8p− (P = 0.002), 8q+ (P = 0.012) and CK (P = 0.009) were associated with shorter OS. However, in multivariate analysis only CK (HR = 2.47, P = 0.027) maintained independent significance, being associated with a dismal outcome regardless of chromosome 8 abnormalities. In conclusion, our results highlight the association of chromosome 8 abnormalities with CK amongst CLL patients with TP53abs, while also revealing that CK can further aggravate the prognosis of this aggressive subgroup. PMID:27821812

  19. In vitro fertilization surrogacy in rare coexisting Mayer-Rokitansky-Kuster-Hauser syndrome and triple X karyotype.

    PubMed

    Raziel, Arieh; Friedler, Shevach; Gidoni, Yariv; Ben-ami, Ido; Strassburger, Deborah; Ron-El, Raphael

    2011-04-01

    To report the responses to IVF surrogacy attempts in a female with a heretofore never described combination of Mayer-Rokitansky-Kuster-Hauser (MRHK) syndrome and triple X karyotype. Case report. Reproductive unit of a university-affiliated medical center. A 29-year-old female diagnosed as having both MRHK syndrome and a triple X (47XXX) karyotype. Five cycles of IVF surrogacy. Recovery of oocytes after controlled ovarian stimulation. A maximum of five oocytes were retrieved by percutaneous abdominal aspiration of a single subcostal left ovary. After five unsuccessful IVF trials due to low ovarian response attributed to her coexisting MRHK syndrome and triple X karyotype, the patient's choice was oocyte donation. An abnormal karyotype can coexist with MRKH syndrome, albeit very rarely, and probably accounts for a low ovarian response to attempts to achieve IVF surrogacy. Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  20. Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype

    PubMed Central

    Hashimoto, H.; Maruyama, H.; Koshida, R.; Okuda, N.; Murayama, K.; Katsumi, T.; Watanabe, K.; Sato, T.

    1997-01-01

    Accepted 19 November 1996
 A case is reported of dysgenetic male pseudohermaphroditism (DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker chromosome of this patient consisted of most if not all of the short arm, including the sex determining region of the Y chromosome. Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/46,X+mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome.

 PMID:9135271

  1. Presence of Turner stigmata in a case of dysgenetic male pseudohermaphroditism with 45,X/46,X+mar karyotype.

    PubMed

    Hashimoto, H; Maruyama, H; Koshida, R; Okuda, N; Murayama, K; Katsumi, T; Watanabe, K; Sato, T

    1997-03-01

    A case is reported of dysgenetic male pseudohermaphroditism (DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker chromosome of this patient consisted of most if not all of the short arm, including the sex determining region of the Y chromosome. Although this karyotype is relatively common in Turner's syndrome and occasionally observed in mixed gonadal dysgenesis, DMPH is usually exemplified by a 46,XY karyotype except for one patient reported with 45,X/46,XY mosaicism. Turner stigmata have not previously been reported in DMPH. The present patient is an intermediate case between mixed gonodal dysgenesis and typical DMPH, and this indicates that 45,X/ 46,X +mar karyotype abnormality can result in a wide range of phenotype such as DMPH, mixed gonodal dysgenesis and Turner's syndrome.

  2. Karyotype Diversity in Doradidae (Siluriformes, Doradoidea) and Presence of the Heteromorphic ZZ/ZW Sex Chromosome System in the Family.

    PubMed

    Takagui, Fábio Hiroshi; Moura, Lucas Ferreira de; Ferreira, Daniela Cristina; Centofante, Liano; Vitorino, Carla de Andrade; Bueno, Vanessa; Margarido, Vladimir Pavan; Venere, Paulo Cesar

    2017-06-01

    Karyotypes and other chromosomal markers as revealed by conventional and molecular cytogenetic protocols in four species of the catfish family Doradidae from the Araguaia-Tocantins river basin, namely Hassar wilderi, Leptodoras cataniae, Tenellus leporhinus and Tenellus trimaculatus were examined. All species had diploid chromosome number 2n = 58 and karyotypes dominated by biarmed chromosomes, simple NOR phenotype, that is, one chromosome pair bearing this site in terminal position, but some differences in karyotypes and distribution of constitutive heterochromatin, position of rDNA sites. Such characteristics appeared species-specific. A ZZ/ZW sex chromosome system was found in Tenellus trimaculatus, resulting likely from the amplification of the heterochromatin, followed by a paracentric inversion. Our results confirmed low karyotype differentiation observed until now among representatives of this endemic catfish family.

  3. Chromosome Mis-segregation Generates Cell-Cycle-Arrested Cells with Complex Karyotypes that Are Eliminated by the Immune System.

    PubMed

    Santaguida, Stefano; Richardson, Amelia; Iyer, Divya Ramalingam; M'Saad, Ons; Zasadil, Lauren; Knouse, Kristin A; Wong, Yao Liang; Rhind, Nicholas; Desai, Arshad; Amon, Angelika

    2017-06-19

    Aneuploidy, a state of karyotype imbalance, is a hallmark of cancer. Changes in chromosome copy number have been proposed to drive disease by modulating the dosage of cancer driver genes and by promoting cancer genome evolution. Given the potential of cells with abnormal karyotypes to become cancerous, do pathways that limit the prevalence of such cells exist? By investigating the immediate consequences of aneuploidy on cell physiology, we identified mechanisms that eliminate aneuploid cells. We find that chromosome mis-segregation leads to further genomic instability that ultimately causes cell-cycle arrest. We further show that cells with complex karyotypes exhibit features of senescence and produce pro-inflammatory signals that promote their clearance by the immune system. We propose that cells with abnormal karyotypes generate a signal for their own elimination that may serve as a means for cancer cell immunosurveillance. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. [Simultaneous study of karyotype and bone marrow histology in chronic myeloid leukemia with Ph1 chromsome. (author's transl)].

    PubMed

    Michaux, J L; Van Den Berghe, H; Rodhain, J; Sokal, G; David, G; Hulhoven, R

    1975-01-01

    This study was devoted to the simultaneous examination of the karyotype and the bone marrow histology in 33 patients suffering from chronic myeloid leukemia with the Ph1 chromosome. Some patients were evaluated in the beginning of the disease, others after evolution and treatment and some at both times. Supplementary abnormalities of the karyotype occurred in some patients before any treatment, but in most after evolution and treatment. The abnormalities encountered consisted in hypodiploidies, modifications of chromosome structure and hyperdiploidies. The additional abnormalities of the karyotype were in the majority of the patients accompanied by a bone marrow histology characterized by more pronounced blastic infiltration and precollagen fibrosis and evidence of bone lesions. The picture realized by the karyotype and the bone marrow histology allows a better evaluation of the evolution and the prognosis is individual cases, especially of the likely hood of the acute blastic transformation.

  5. Karyotypic characterization of Trachemys dorbigni (Testudines: Emydidae) and Chelonoidis (Geochelone) donosobarrosi (Testudines: Testudinidae), two species of Cryptodiran turtles from Argentina.

    PubMed

    Martinez, Pablo A; Boeris, Juan M; Sánchez, Julieta; Pastori, María C; Bolzán, Alejandro D; Ledesma, Mario A

    2009-12-01

    We describe for the first time the karyotypes of two species of Cryptodiran turtles from Argentina, namely, Trachemys dorbigni (Emydidae) and Chelonoidis (Geochelone) donosobarrosi (Testudinidae). The karyotype of T. dorbigni (2n = 50) consists of 13 pairs of macrochromosomes and 12 pairs of microchromosomes, whereas the karyotype of C. donosobarrosi (2n = 52) consists of 11 pairs of macrochromosomes and 15 pairs of microchromosomes. Fluorescence in situ hybridization (FISH) with a (TTAGGG)n telomeric probe showed that the chromosomes of these species have four telomeric signals, two at each end, indicating that none of the chromosomes of T. dorbigni and C. donosobarrosi are telocentric. The fact that no interstitial telomeric signals were observed after FISH, suggests that interstitial telomeric sequences did not have a major role in the chromosomal evolution of these species. Additional data will be needed to elucidate if interstitial telomeric sequences have a major role in the karyotypic evolution of Testudines.

  6. The karyotypes of five species of the Scinax perpusillus group (Amphibia, Anura, Hylidae) of southeastern Brazil show high levels of chromosomal stabilization in this taxon.

    PubMed

    Peixoto, Marco Antônio Amorim; Lacerda, João Victor Andrade; Coelho-Augusto, Carolina; Feio, Renato Neves; Dergam, Jorge Abdala

    2015-12-01

    Based on morphological, bioacoustics, and morphological traits, the genus Scinax has been subdivided into two major clades: S. catharinae and S. ruber. The first clade includes S. catharinae and S. perpusillus groups, whereas the second clade includes S. rostratus and S. uruguayus groups. Chromosome morphology, NOR and C-banding patterns of variation support these clades. This study aims the cytogenetic characterization of five species currently included in the S. perpusillus group: Scinax sp. (gr. perpusillus), S. arduous, S. belloni, S. cosenzai, and S. v-signatus, including standard cytogenetic techniques and repetitive DNA FISH probes. All species had 2n = 24 chromosomes. Nucleolar organizing regions occurred in chromosome pair 6 in all species, but differed in their locations among some species, suggesting a putative synaponomastic character for the clade. In S. belloni, the first chromosome pair was a metacentric, contrasting with the submetacentric first pair reported in all other species of the genus. Scinax sp. (gr. perpusillus) and S. v-signatus had similar karyotypic formulae, suggesting they are related species. Scinax cosenzai had a divergent C-banding pattern. Repetitive DNA probes hybridized more frequently in chromosomal subtelomeric regions in all species indicating recent cladogenesis in these species. Karyotypic evidence indicates unreported high levels of stabilization within S. perpusillus and in S. catharinae clade, resulting in a wealth of characters potentially informative for higher phylogenetic analyses.

  7. Teaching Normal Birth Interactively

    PubMed Central

    Hotelling, Barbara A.

    2004-01-01

    In this column, the author provides examples of teaching strategies that childbirth educators may utilize to illustrate each of the six care practices supported by Lamaze International to promote normal birth: labor begins on its own, freedom of movement throughout labor, continuous labor support, no routine interventions, non-supine (e.g., upright or side-lying) positions for birth, and no separation of mother and baby with unlimited opportunity for breastfeeding. PMID:17273389

  8. Electrophoretic karyotyping of Hypsizygus marmoreus and evaluation of variation among its basidiospores.

    PubMed

    Lee, Song Hee; Kim, Min Keun; Lee, Mi Kyoung; Kim, Na Ri; Lee, Chang-Yun; Lee, Hyun-Sook

    2014-10-01

    The molecular karyotype of Hypsizygus marmoreus was explored by contour-clamped homogeneous electric field gel electrophoresis. Eleven chromosomal bands were separated from the dikaryotic mycelia of H. marmoreus (strain Hm 3-10), and the chromosomes ranged in size from 1.9 to 5.8 Mb. The total genome size of the strain was estimated to be 36.3 Mb. The chromosome numbers were also confirmed by telomere fingerprinting, and 22 telomeric bands were identified. This result suggests that 11 chromosomes exist in Hm 3-10. The marker sequences for each chromosome were determined and were applied to identify each chromosome. Karyotyping and Southern blot analysis revealed that the size of chromosomes in the basidiospores were greatly different from those of parental dikaryon Hm 3-10 cells. © 2014 Federation of European Microbiological Societies. Published by John Wiley & Sons Ltd. All rights reserved.

  9. Donkey genome and insight into the imprinting of fast karyotype evolution.

    PubMed

    Huang, Jinlong; Zhao, Yiping; Bai, Dongyi; Shiraigol, Wunierfu; Li, Bei; Yang, Lihua; Wu, Jing; Bao, Wuyundalai; Ren, Xiujuan; Jin, Burenqiqige; Zhao, Qinan; Li, Anaer; Bao, Sarula; Bao, Wuyingga; Xing, Zhencun; An, Aoruga; Gao, Yahan; Wei, Ruiyuan; Bao, Yirugeletu; Bao, Taoketao; Han, Haige; Bai, Haitang; Bao, Yanqing; Zhang, Yuhong; Daidiikhuu, Dorjsuren; Zhao, Wenjing; Liu, Shuyun; Ding, Jinmei; Ye, Weixing; Ding, Fangmei; Sun, Zikui; Shi, Yixiang; Zhang, Yan; Meng, He; Dugarjaviin, Manglai

    2015-09-16

    The donkey, like the horse, is a promising model for exploring karyotypic instability. We report the de novo whole-genome assemblies of the donkey and the Asiatic wild ass. Our results reflect the distinct characteristics of donkeys, including more effective energy metabolism and better immunity than horses. The donkey shows a steady demographic trajectory. We detected abundant satellite sequences in some inactive centromere regions but not in neocentromere regions, while ribosomal RNAs frequently emerged in neocentromere regions but not in the obsolete centromere regions. Expanded miRNA families and five newly discovered miRNA target genes involved in meiosis may be associated with fast karyotype evolution. APC/C, controlling sister chromatid segregation, cytokinesis, and the establishment of the G1 cell cycle phase were identified by analysis of miRNA targets and rapidly evolving genes.

  10. Donkey genome and insight into the imprinting of fast karyotype evolution

    PubMed Central

    Huang, Jinlong; Zhao, Yiping; Bai, Dongyi; Shiraigol, Wunierfu; Li, Bei; Yang, Lihua; Wu, Jing; Bao, Wuyundalai; Ren, Xiujuan; Jin, Burenqiqige; Zhao, Qinan; Li, Anaer; Bao, Sarula; Bao, Wuyingga; Xing, Zhencun; An, Aoruga; Gao, Yahan; Wei, Ruiyuan; Bao, Yirugeletu; Bao, Taoketao; Han, Haige; Bai, Haitang; Bao, Yanqing; Zhang, Yuhong; Daidiikhuu, Dorjsuren; Zhao, Wenjing; Liu, Shuyun; Ding, Jinmei; Ye, Weixing; Ding, Fangmei; Sun, Zikui; Shi, Yixiang; Zhang, Yan; Meng, He; Dugarjaviin, Manglai

    2015-01-01

    The donkey, like the horse, is a promising model for exploring karyotypic instability. We report the de novo whole-genome assemblies of the donkey and the Asiatic wild ass. Our results reflect the distinct characteristics of donkeys, including more effective energy metabolism and better immunity than horses. The donkey shows a steady demographic trajectory. We detected abundant satellite sequences in some inactive centromere regions but not in neocentromere regions, while ribosomal RNAs frequently emerged in neocentromere regions but not in the obsolete centromere regions. Expanded miRNA families and five newly discovered miRNA target genes involved in meiosis may be associated with fast karyotype evolution. APC/C, controlling sister chromatid segregation, cytokinesis, and the establishment of the G1 cell cycle phase were identified by analysis of miRNA targets and rapidly evolving genes. PMID:26373886

  11. The First Reported Case of Meckel-Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17.

    PubMed

    Cierna, Zuzana; Janega, Pavol; Grochal, Frantisek; Ferianec, Vladimir; Braxatorisova, Tatiana; Strieskova, Lucia; Malova, Jana; Jungova, Petra; Szemes, Tomas

    2017-01-01

    Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel-Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17. Homozygous deletion in CC2D2A gene was found by Sanger sequencing. This is to our knowledge the first case of genetically confirmed Meckel-Gruber syndrome with incidental cofinding of mosaic trisomy 17. Abnormal karyotype does not exclude diagnosis of MKS with risk of recurrence 25% in next pregnancy. In the case of anomalies typical for Meckel-Gruber syndrome, genetic analysis is indicated.

  12. L5178Y S/S murine leukemic lymphoblast: a radiosensitive, malignant cell of stable karyotype

    SciTech Connect

    Rutledge, M.H.; Lett, J.T.

    1980-02-01

    We have found that the S/S variant of the murine leukemic lymphoblast, L5178Y, has a stable chromosomal complement with a modal chromosome number of 40(2n = 40). The only variation from the G-banded wild-type karyotype of the mouse is a Y-chromosome deletion. Since the malignant cell line has been established for 16 years and is sensitive to X rays, the stability of the karyotype provides the essential property needed for utilizing the cell in investigations of the genetic control of cellular (DNA) repair. One unique response of the cell to X rays is a single peak of radioresistance at, or very near, the S-G/sub 2/ border. Through (/sup 3/H)TdR autoradiography, we have found that chromosomes 14 and 15 replicate significantly more than other chromosomes at that time, while they label little during early S.

  13. Reproductive outcomes in men with karyotype abnormalities: Case report and review of the literature

    PubMed Central

    Kohn, Taylor P.; Clavijo, Raul; Ramasamy, Ranjith; Hakky, Tariq; Candrashekar, Aravind; Lamb, Dolores J.; Lipshultz, Larry I.

    2015-01-01

    Reciprocal translocations of autosomal chromosomes are present in about 1/625 men, yet often there are no symptoms except primary infertility. Abnormal segregation during meiosis often produces sperm and subsequent embryos with unbalanced translocations that often ultimately result in spontaneous abortions. We report on a 37-year-old man and his 39-year-old wife who complained of primary infertility. Previous in vitro fertilization (IVF) had resulted in pregnancy, but two spontaneous abortions. Upon chromosomal testing, the man was diagnosed with a reciprocal translocation and his wife was diagnosed with mosaic Turner’s syndrome. Through testicular sperm extraction (TESE) and IVF with preimplantation genetic screening (PGS), they succeeded in having two healthy children. Since men with different karyotype abnormalities can have male infertility, we reviewed the literature and summarized the reproductive outcomes for men with both autosome and sex chromosomal karyotype abnormalities. PMID:26425238

  14. The bovine bivariate flow karyotype and peak identification by chromosome painting with PCR-generated probes.

    PubMed

    Schmitz, A; Oustry, A; Chaput, B; Bahri-Darwich, I; Yerle, M; Millan, D; Frelat, G; Cribiu, E P

    1995-06-01

    A bovine bivariate flow karyotype has been established from a primary fibroblast cell culture carrying a 4;10 Robertsonian translocation. From 27 to 36 populations could be resolved by flow cytometry although the anticipated number was 31. Separation of chromosomal pairs into two populations explains this high resolution and confirms the high level of heteromorphism previously observed. We used a PARM-PCR (Priming Authorizing Random Mismatches) procedure for the production of paint probes from flow-sorted chromosome fractions. These probes were used for chromosome identification by fluorescence in situ hybridization (FISH) on R-banded metaphase spreads. We present the localization of all the bovine chromosome types on the flow karyotype. Twenty-two chromosome types including the translocated chromosome were sorted as pure fractions.

  15. Karyotype and spermatogenesis in Triatoma lenti (Hemiptera: Triatominae), a potential Chagas vector.

    PubMed

    Alevi, K C C; Mendonça, P P; Succi, M; Pereira, N P; Rosa, J A; Azeredo-Oliveira, M T V

    2012-12-17

    All species of Triatominae are susceptible to infection by Trypanosoma cruzi (Kinetoplastida: Trypanosomatidae) and consequently, potential insect vectors of Chagas disease. Currently, there are 140 known species of triatomine bugs, which can be grouped into specific species complexes. The species Triatoma lenti (Hemiptera: Triatominae) is found only in Brazil and is considered a potential vector of Chagas disease. We karyotyped male T. lenti and examined its spermatogenesis in detail. The karyotype was found to be 2n = 20A + XY, demonstrating that this organism has the modal chromosome set found in triatomines. This new information concerning males of this species contributed to biological data that will be useful for understanding this potentially important Chagas disease vector.

  16. Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype

    PubMed Central

    Yüce, Özge; Döğer, Esra; Çelik, Nurullah; Emeksiz, Hamdi Cihan; Çamurdan, Mahmut Orhun; Bideci, Aysun; Cinaz, Peyami

    2015-01-01

    Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assessment was consistent with gonadoblastoma in the left gonad, and dysgerminoma and gonadoblastoma in neighboring areas in the right gonad. The karyotype analysis of the right and left gonadal tissues reveled 45,X[97,3]/46,XY[2,7] and 45,X[92,7]/46,XY[4,5]/47,XYY [2,8] mosaic, respectively. The clinical management of such patient should be individualized according to the present risk factors. Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor. PMID:26777047

  17. Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype.

    PubMed

    Yüce, Özge; Döğer, Esra; Çelik, Nurullah; Emeksiz, Hamdi Cihan; Çamurdan, Mahmut Orhun; Bideci, Aysun; Cinaz, Peyami

    2015-12-01

    Individuals with 45,X/46,XY karyotype are at increased risk for germ cell tumor development. We report a case with a diagnosis of 45,X/46,XY gonadal dysgenesis who presented with short stature, physical stigmata of Turner syndrome. Her pubertal development was at Tanner stage 3. At follow-up, bilateral prophylactic gonadectomy was performed when considering the risk factors. Pathological assessment was consistent with gonadoblastoma in the left gonad, and dysgerminoma and gonadoblastoma in neighboring areas in the right gonad. The karyotype analysis of the right and left gonadal tissues reveled 45,X[97,3]/46,XY[2,7] and 45,X[92,7]/46,XY[4,5]/47,XYY [2,8] mosaic, respectively. The clinical management of such patient should be individualized according to the present risk factors. Additionally, signs of estrogenization like advanced breast development always suggest the possible presence of germ cell tumor.

  18. SKY detection of chromosome rearrangements in two cases of tMDS with a complex karyotype.

    PubMed

    Cohen, Ninette; Trakhtenbrot, Luba; Yukla, Mona; Manor, Yosef; Gaber, Elena; Yosef, Gabi; Amariglio, Ninette; Rechavi, Gideon; Amiel, Aliza

    2002-10-15

    In this study, we used spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) as complementary techniques for the analysis of two therapy-related secondary myelodysplastic syndrome (t-MDS) cases with complex karyotypes, previously analyzed by G-banding. Different types of SKY's cytogenetic contributions include confirmation of G-banding results, identification of partially characterized rearrangements, identification of marker chromosomes unidentified by G-banding, and detection of cryptic reciprocal translocations. In particular, the ability of SKY to clarify a number of markers led to the comprehension of clonal evolution. The common aberration found in these two t-MDS cases was the fragility of chromosome 5 and monosomy of chromosome 18. We clearly present that the use of SKY combined with conventional G-banding analysis and FISH has assisted in the identification of important chromosomal events that may play a key role in the development of t-MDS.

  19. A survey of malformed aborted bovine fetuses, stillbirths and nonviable neonates for abnormal karyotypes.

    PubMed Central

    Coates, J W; Schmutz, S M; Rousseaux, C G

    1988-01-01

    Postmortem examinations were performed on 30 morphologically abnormal aborted bovine fetuses, stillbirths and nonviable neonates. Fibroblasts from the pericardium were cultured for chromosome analysis. Karyotypes were successfully completed on 18 animals, of which three were trisomic, one was mosaic monosomic and one was chimeric. All aneuploid calves had multisystemic anomalies. Using chromosomal banding techniques, the abnormal karyotypes were determined to be: 61,XY,+27; 61,XX,+21; 61,XY,+?; 59,XY,-?/60,XY; and 60,XX/60,XY. Bacterial contamination or nonviability of tissues prevented the growth of fibroblasts in culture and cytogenetic analysis of the other 12 animals. It was estimated that 2.0% of all late gestation abortuses and stillbirths may have chromosomal abnormalities characterized by aneuploidy. The findings of this study suggest chromosomal abnormalities characterized by aneuploidy are a significant cause of multisystemic anomalies in aborted bovine fetuses and nonviable neonates. Images Fig. 1. Fig. 2. Fig. 3. Fig. 4. Fig. 5. PMID:3370561

  20. Karyotype variation in cultivars and spontaneous cocoa mutants (Theobroma cacao L.).

    PubMed

    Figueiredo, G S F; Melo, C A F; Souza, M M; Araújo, I S; Zaidan, H A; Pires, J L; Ahnert, D

    2013-10-18

    Four mutant cocoa accessions with morphological changes and a cultivar sample were karyomorphologically characterized. Slides were prepared by enzymatic digestion of the root meristem and squashed in 45% acetic acid, followed by 2% Giemsa staining. The chromosome number of 2n = 20 was seen in all accessions. The karyotype formula for Cacau Comum and Cacau Rui was 2n = 20m. Submetacentric chromosomes were observed in Cacau Pucala and Cacau Jaca, both with 2n = 18m + 2sm, but the karyotype formula for Cacau Sem Vidro was 2n = 16m + 4sm. Satellites were located on the long arm of the 1st and 2nd chromosome pairs of Cacau Comum, whereas Cacau Pucala had satellites on the 6th chromosome pair. Greater karyotypic variation in Cacau Sem Vidro was found, whose 1st and 2nd chromosome pairs had satellites on the long arm and 6th and 10th pairs had satellites on the short arm. Analysis revealed a lower average chromosome length in Cacau Comum (1.53 ± 0.026 µm) and a higher length in Cacau Sem Vidro (2.26 ± 0.038 µm). ANOVA revealed significant difference (P < 0.01) for the average chromosome length and the length of chromosome pairs within and between accessions. The average chromosome lengths of mutants of Cacau Rui and Cacau Jaca were not statistically different by the Tukey test at 5% probability. The karyotypic diversity observed in this study is not necessarily associated with the changing character of the accessions analyzed, but may reflect the genetic variation observed in Theobroma cacao.

  1. Comparative karyotype analysis of populations in the Alstroemeria presliana Herbert (Alstroemeriaceae) complex in Chile

    PubMed Central

    Baeza, Carlos; Finot, Víctor L.; Ruiz, Eduardo

    2015-01-01

    Alstroemeria L., one of the most diverse genera of the Chilean flora and of high floricultural value, is represented by 35 species, most of them distributed between 28–38° S in the Mediterranean zone of Central Chile. There are 24 complex-forming taxa, of which 18 have conservation problems (8 are considered “endangered” and 10 as “vulnerable”). One of these complexes is Alstroemeria presliana Herb. with two subspecies: subsp. presliana and subsp. australis Bayer. Alstroemeria presliana grows in Chile and Argentina: subsp. presliana is distributed from Reserva Nacional Siete Tazas (35°27′ S, Region of Maule) to Antuco, (37°25′ S, Region of Bío-Bío), and is also found in Neuquén, Argentina; subsp. australis is endemic to the Cordillera of Nahuelbuta. A comparative karyotype study was carried out among six populations of A. presliana subsp. presliana and five populations of A. presliana subsp. australis. The eleven populations presented an asymmetric karyotype, with 2n = 2× = 16 chromosomes but with different karyotype formulae. A. presliana subsp. presliana shows the haploid formula 2m + 2m-sat + 1sm-sat + 1st-sat + 1t + 1 t-sat, and A. preslianasubsp. australis presents a formula 1m + 2m-sat + 1sm + 2t + 2t-sat chromosomes. The architecture of the karyotype between the subspecies is very different. The scatter plot among CVCL vs. MCA shows different groupings between populations of the two subspecies. According to the results obtained it is possible to consider raising Alstroemeria presliana subsp. australis at species level. PMID:26273223

  2. Association of electrophoretic karyotype of Candida stellatoidea with virulence for mice

    SciTech Connect

    Kwon-Chung, K.J.; Wickes, B.L.; Merz, W.G.

    1988-07-01

    Seven isolates of Candida stellatoidea were studied for their electrophoretic karyotype, virulence for mice, sensitivity to UV radiation, growth rate in vitro, reaction on cycloheximide-indicator medium, and proteinase activity. The isolates exhibited one of two distinct electrophoretic karyotypes as determined by orthogonal field alternating gel electrophoresis (OFAGE). Four isolates, including the type culture of C. stellatoidea, belonged to electrophoretic karyotype type I by OFAGE, showing eight to nine bands of which at least two bands were less than 1,000 kilobases in size as estimated by comparison with the DNA bands of Saccharomyces cerevisiae. These isolates failed to produce fatal infection in mice within 20 days when 5 X 10(5) cells were injected intravenously. The yeasts were cleared from the kidneys of two of three mice tested by day 30. Type I showed proteinase activity on bovine serum albumin agar at pH 3.8 and produced a negative reaction on cycloheximide-bromcresol green medium within 48 h. The three grouped in type II by OFAGE showed banding patterns similar to those of a well-characterized isolate of Candida albicans. The isolates of type II had an electrophoretic karyotype of six to seven bands approximately 1,200 kilobases or greater in size. All three type II isolates were highly virulent for mice, producing fatality curves similar to those of a previously studied C. albicans isolate. From 80 to 90% of the mice injected with 5 X 10(5) cells intravenously died within 20 days. The type II isolates produced a positive reaction on cycloheximide-bromcresol green agar and showed no proteinase activity on bovine serum albumin agar at the low pH. In addition, the type II isolates grew faster and were significantly more resistant to UV irradiation than the type I isolates.

  3. Comparative karyotype analysis of populations in the Alstroemeria presliana Herbert (Alstroemeriaceae) complex in Chile.

    PubMed

    Baeza, Carlos; Finot, Víctor L; Ruiz, Eduardo

    2015-05-01

    Alstroemeria L., one of the most diverse genera of the Chilean flora and of high floricultural value, is represented by 35 species, most of them distributed between 28-38° S in the Mediterranean zone of Central Chile. There are 24 complex-forming taxa, of which 18 have conservation problems (8 are considered "endangered" and 10 as "vulnerable"). One of these complexes is Alstroemeria presliana Herb. with two subspecies: subsp. presliana and subsp. australis Bayer. Alstroemeria presliana grows in Chile and Argentina: subsp. presliana is distributed from Reserva Nacional Siete Tazas (35°27' S, Region of Maule) to Antuco, (37°25' S, Region of Bío-Bío), and is also found in Neuquén, Argentina; subsp. australis is endemic to the Cordillera of Nahuelbuta. A comparative karyotype study was carried out among six populations of A. presliana subsp. presliana and five populations of A. presliana subsp. australis. The eleven populations presented an asymmetric karyotype, with 2n = 2× = 16 chromosomes but with different karyotype formulae. A. presliana subsp. presliana shows the haploid formula 2m + 2m-sat + 1sm-sat + 1st-sat + 1t + 1 t-sat, and A. preslianasubsp. australis presents a formula 1m + 2m-sat + 1sm + 2t + 2t-sat chromosomes. The architecture of the karyotype between the subspecies is very different. The scatter plot among CVCL vs. MCA shows different groupings between populations of the two subspecies. According to the results obtained it is possible to consider raising Alstroemeria presliana subsp. australis at species level.

  4. Dynamic karyotype evolution and unique sex determination systems in Leptidea wood white butterflies.

    PubMed

    Šíchová, Jindra; Voleníková, Anna; Dincă, Vlad; Nguyen, Petr; Vila, Roger; Sahara, Ken; Marec, František

    2015-05-19

    Chromosomal rearrangements have the potential to limit the rate and pattern of gene flow within and between species and thus play a direct role in promoting and maintaining speciation. Wood white butterflies of the genus Leptidea are excellent models to study the role of chromosome rearrangements in speciation because they show karyotype variability not only among but also within species. In this work, we investigated genome architecture of three cryptic Leptidea species (L. juvernica, L. sinapis and L. reali) by standard and molecular cytogenetic techniques in order to reveal causes of the karyotype variability. Chromosome numbers ranged from 2n = 85 to 91 in L. juvernica and 2n = 69 to 73 in L. sinapis (both from Czech populations) to 2n = 51 to 55 in L. reali (Spanish population). We observed significant differences in chromosome numbers and localization of cytogenetic markers (rDNA and H3 histone genes) within the offspring of individual females. Using FISH with the (TTAGG) n telomeric probe we also documented the presence of multiple chromosome fusions and/or fissions and other complex rearrangements. Thus, the intraspecific karyotype variability is likely due to irregular chromosome segregation of multivalent meiotic configurations. The analysis of female meiotic chromosomes by GISH and CGH revealed multiple sex chromosomes: W1W2W3Z1Z2Z3Z4 in L. juvernica, W1W2W3Z1Z2Z3 in L. sinapis and W1W2W3W4Z1Z2Z3Z4 in L. reali. Our results suggest a dynamic karyotype evolution and point to the role of chromosomal rearrangements in the speciation of Leptidea butterflies. Moreover, our study revealed a curious sex determination system with 3-4 W and 3-4 Z chromosomes, which is unique in the Lepidoptera and which could also have played a role in the speciation process of the three Leptidea species.

  5. Selected clinical features of the head and neck in women with Turner syndrome and the 45,X/46,XY karyotype.

    PubMed

    Frelich, Agnieszka; Frelich, Jakub; Jeż, Wacław; Irzyniec, Tomasz

    2017-01-01

    A 45,X/46,XY karyotype in women with Turner syndrome (TS) is very rare. The presence of a Y chromosome in the karyotype causes phenotypic differences and increased risk for neoplastic disease, compared to TS-women with other karyotypes. Our study addresses an issue: non-genital phenotypic differences between TS-patients with a Y-chromosome of their karyotype and TS-women without it. Results from patient history/physical examinations of the head and neck of eight TS-women and the 45,X/46,XY karyotype were compared with those observed in 164 TS-women and 30 controls. The heights of TS-groups: 142.5 ± 7.2 and 144.9 ± 7.2 cm were lower than controls (165.2 ± 6.6 cm). Participants were examined from 1995 to 2014. Among 28 study parameters, 15 were more frequently observed in TS women with the 45,X/46,XY karyotype compared to controls. Only abnormalities in the oral cavity and a history of childhood lymphoedema, differed significantly in the TS groups. With respect to the head and neck, the patient history and physical examination results of TS-women and the 45,X/46,XY karyotype and TS and other karyotypes revealed similar differences compared to controls. Compared to others TS patients, 45,X/46,XY individuals might more frequently have oral cavity soft tissue abnormalities and more rarely a history of childhood lymphoedema. (Endokrynol Pol 2017; 68 (1): 47-52).

  6. The effect of bridge exercise accompanied by the abdominal drawing-in maneuver on an unstable support surface on the lumbar stability of normal adults.

    PubMed

    Gong, Wontae

    2015-01-01

    [Purpose] The present study sought to investigate the influence on static and dynamic lumbar stability of bridge exercise accompanied by an abdominal drawing-in maneuver (ADIM) performed on an uneven support surface. [Subjects] A total of 30 participants were divided into an experimental group (15 participants) and a control group (15 participants). [Methods] The experimental group performed bridge exercise on an unstable surface, whereas the control group performed bridge exercise on a stable surface. The respective bridge exer