... abnormalities of chromosomes. Normally every cell of the human body has 46 chromosomes, organized in 23 pairs (22 pairs of autosomes, identical in males and females) and one pair of sex chromosomes � XX in females and ...
MedlinePLUS
Argues that knowledge from studies of individuals with sex chromosome abnormalities can further understanding of aspects of normal human development. Studies of XO girls, XXY boys, XXX girls, and males with a fragile X chromosome are summarized to demonstrate how results contribute to knowledge about normal ...
ERIC Educational Resources Information Center
In the case of autosomal dominant genes, a single abnormal gene on one of the autosomal chromosomes (one of the first 22 "non-sex" chromosomes) from either parent can ...
section from an online biology textbook covering XY differences, X-inactivation, X abnormalities, sex determination in other animals and hermaphrodites.
NSDL National Science Digital Library
This presentation is designed to show the diagnostic implications of chromosomal abnormalities, and how in some cases chromosome analysis may be helpful in prognosis and counselling. Most males with Klinefelter's syndrome have chromatinpositive nuclei and an abnormal sex ...
PubMed Central
The sex chromosomes play a highly specialized role in germ cell development in mammals, being enriched in genes expressed in the testis and ovary. Sex chromosome abnormalities (e.g., Klinefelter [XXY] and Turner [XO] syndrome) constitute the largest class of chromosome ...
PubMed
Molecular cytogenetic aneuploidy testing for pregnant women at increased risk of chromosome abnormality leads to rapid reassurance for those with normal results and earlier decisions on pregnancy management in the case of abnormality. We tested 9080 prenatal samples using a one-tube QF-PCR test for trisomies 13, 18, and 21; the ...
Sex chromosomes evolved from autosomes. Recombination suppression in the sex-determining region and accumulation of deleterious mutations lead to degeneration of the Y chromosomes in many species with heteromorphic X/Y chromosomes. However, how the recombination suppressed domain expands from ...
... sex chromosome aneuploidy in sperm from fathers of Turner syndrome patients. Hum Genet 1999. 104:345�349. CrossRef, ... disomy is increased in spermatozoa from fathers of Turner syndrome patients. Hum Gen...
NBII National Biological Information Infrastructure
Background: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. Method: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of ...
Lymphocyte chromosomes were examined in 36 patients with Alzheimer's presenile dementia, 36 healthy, age and sex matched controls, and 36 sex matched, non-demented, elderly controls, approximately 20 years older than the Alzheimer patients. Increased chromosome aneuploidy was found in females with Alzheimer's ...
Sex chromosome behavior in selected somatic cells is baffling. We serendipitously encountered this sex chromosome shuffle while studying malignant gliomas. Tumor specimens from 3/10 (30%) females and 15/27 (56%) males had sex chromosome abnormalities. ...
Energy Citations Database
Numerical chromosome abnormalities were studied in single blastomeres from arrested or otherwise morphologically abnormal human preimplantation embryos. A 6-h FISH procedure with fluorochrome-labeled DNA probes was developed to determine numerical abnormalities of chromosomes X, Y, and 18. The ...
An intersexual agile wallaby (Macropus agilis) with a penis, a pouch and four teats had a sex-chromosome constitution of XXY in lymphocytes and cultured fibroblasts; the sex-determining region Y (SRY) gene was present, consistent with the presence of a testis. An intersexual eastern grey kangaroo (Macropus giganteus) with a small empty scrotum and no ...
