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 cognitive ...
ERIC Educational Resources Information Center
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 ...
PubMed
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 abnormalities and the ...
than autosomal abnormalities: X inactivation Y contains few functional genes XO � Turner syndrome Klinefelter Syndrome Turner Syndrome #12; syndrome (AIS) � If the testes form normally but are enzymatically incapable of completion of testosterone
E-print Network
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 ...
Intersex disorders result from abnormalities of the sex chromosomes, gonads, internal and external genitalia, sex hormones and gender role. This article reviews the literature on intersex disorders, outlining the characteristics and mode of inheritance, if known, of each. For appropriate and effective management and counselling of ...
PubMed Central
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 chromosome complex (usually XXY). In Turner's syndrome many such ...
... of the patient in preventing the development of septic ... This abnormality occurs ... studies concerning the mechanisms by which abnormalities of the ...
DTIC Science & Technology
Increased fetal nuchal translucency thickness is associated with trisomy 13, trisomy 18, trisomy 21, Turner syndrome, other sex chromosome abnormalities, as well as many fetal anomalies and genetic syndromes. This article provides a comprehensive review of the cardinal proposed pathophysiology including altered composition of the extracellular matrix, ...
Background:?Progressive cortical gray matter (GM) abnormalities are an established feature of schizophrenia and are more pronounced in rare, severe, and treatment refractory childhood-onset schizophrenia (COS) cases. The effect of sex on brain development in schizophrenia is poorly understood and studies to date have produced ...
Examines the history of registration and notification statutes for sex offenders and concerns and legal challenges they have faced, noting psychology's limited knowledge about normal versus abnormal sexual development and research suggesting that recidivism rates for sexual offenses may be lower for juveniles than adults who have ...
Aqueous exposure of newly hatched rainbow trout (Oncorhynchus mykiss) larvae to PCBs resulted in altered sex ratios and severe gonadal abnormalities in juvenile females. The proportion of females decreased from 41.9% in combined controls to 31.6 to 36.1% in groups that accumulated 2.5 {micro}g/g PCBs after 3-h immersions, although this decrease was not ...
Energy Citations Database
We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), congenital adrenal hypoplasia, aniridia, dysmorphic facial features, intrauterine growth retardation, and minor skeletal abnormalities. This combination of abnormalities is yet to be ...
Intersexuality is a rare congenital abnormality in domestic animals. It is reported in numerous species including the swine, goat, horse, cat, and dog. The present work provides an overview of the variety of intersexual conditions known in different dog breeds. Each case was reclassified based on the described gonadal constitution, reproductive tract ...
Individuals with sex chromosomal abnormalities have significantly better chances of leading normal lives than individuals with autosomal abnormalities. This is due, in part, to the role of lyonization in the genetic inactivation of X chromosomes. In contrast to earlier studies contaminated with subject ascertainment bias, prospective ...
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 three chromosomes ...
Professor Austin explores four main areas in this paper. First of all he outlines the physical development of sex differentiation in the embryo. He develops this by describing the clinical manifestations of abnormality which can appear at that stage. Professor Austin points out that there are relatively few people ...
... a brief outline for the development and implementation of ... data exceptions with the abnormalities will be ... the attributes of the abnormality and search ...
Disorders of Sex Development (DSD) remain a fascinating challenge for the paediatricians, endocrinologists, biologists, psychiatrists, geneticists, radiologists, surgeons and for the whole society. This article aims at highlighting the current controversies and questions met with genital reconstruction in children born with abnormal ...
... H. F. Percival, and A. R. Woodward. 1994. Developmental abnormalities of the gonad and abnormal sex hormone concentrations ... ...
NBII National Biological Information Infrastructure
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
One of the main complaints in torture survivors is sleep disturbance with nightmares, too little sleep and daytime fatigue. Seven subjects, who had been exposed to torture from 6 months to seven years previously, were examined by polysomnography. All had abnormal sleep patterns compared with normal age- and sex-matched controls. The subjects woke ...
A 61 year old woman and her 58 year old brother presented with the clinical picture of late onset progressive bulbar and spinal muscular atrophy with family history of involvement in successive generations. The sister also had optic neuropathy and the brother developed diabetes mellitus and sex hormone abnormalities. Neurophysiological ...
The history of ideas on how the sexes became divided spans at least three thousand years. The biblical account of the origin of Eve, and the opinions of the philosophers of classical Greece, have unexpected bearings on present-day ideas. The scientific study of sex determination can be said to have begun in the 17th century with the discovery of ...
Pinna abnormalities and low-set ears refer to abnormalities in the shape or position of the outer ear (pinna ... critical organs are developing (such as the kidneys). Abnormalities in the shape or position of the pinna ...
MedlinePLUS
There is great interest in the sex chromosomes of Xiphophorus fishes because both WY/YY and XX/XY sex-determining mechanisms function in these species, with at least one taxon possessing all three types of sex chromosomes, and because in certain interspecific hybrids melanoma arises as a consequence of inheritance of the ...
Inherited disorders of sexual development are important to identify as a cause of inherited infertility or sterility in humans and animals. Investigation of these disorders in dogs and cats can identify new mutations, allowing us to eliminate inherited disorders from breeding populations, while contributing to the understanding of mammalian sexual ...
Numerous anomalies involving the sex chromosomes (X or Y) have been documented and their impact on development, learning, and behavior studied. This article reviews three of these disorders, Turner syndrome, Klinefelter syndrome, and Lesch-Nyhan disease. Each of these three is associated with one or more selective impairments or behavioral ...
This study investigated the influence of cat urine odour in suppressing development and fertility in Campbell's hamster males. Exposure to this odour from postnatal day 11 until day 45 (sexual maturation) resulted in reduced sex organ weights, reduced testosterone levels and in an increase in abnormalities of the synaptonemal complex ...
NASA Astrophysics Data System (ADS)
... departments and agencies for Research Development Test and ... Title : WATER DISTRIBUTION ABNORMALITIES IN HYPOTHYROID DOGS DUE ...
... the military departments and agencies for Research Development Test and ... Title : Vascular Abnormalities Associated with Thermal and Electrical ...
... the military departments and agencies for Research Development Test and ... STUDIES ON THE NATURE OF THE ABNORMALITIES IN SOLUTE ...
... 0703 TITLE: Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alterations in CNS Development ...
... 0702 TITLE: Redox abnormalities as a vulnerability phenotype for Autism and related alternations in CNS development ...
... and analysis capabilities across the military departments and agencies for Research Development Test and ... Title : Platelet Abnormalities in Malaria. ...
... military departments and agencies for Research Development Test and ... Title : Molecular Mechanisms of Glial Abnormalities in Neurofibromatosis. ...
... capabilities across the military departments and agencies for Research Development Test and ... Title : Detection of Abnormalities in MANETs. ...
... military departments and agencies for Research Development Test and ... Title : DETECTING BURNING ABNORMALITIES IN A SOLID PROPELLANT ...
... the military departments and agencies for Research Development Test and ... Title : CHROMOSOME ABNORMALITIES IN LIVER AND MARROW OF ...
The recent emergence of human cytogenetics has a firm foundation in studies on other forms of life. Historical highlights are Mendel's studies on the garden pea (published in 1865 but lost in an obscure journal until 1900); formulation of cytogenic postulates by Sutton and Boveri (1902-1903); Bridges' discovery of chromosome abnormalities in Drosophila (1916), followed by ...
Clinical observations and experimental data suggest that sex hormones influence the development of systemic lupus erythematosus (SLE). An imbalance between androgen and estrogen plasma levels may suggest an abnormality in the aromatase activity involved in estradiol synthesis. Aromatase activity in skin and subcutaneous tissue and ...
Since 1946 a continuous effort to evaluate the potential genetic effects of the atomic bombs has been sustained. Observations on children born in Hiroshima and Nagasaki include sex ratio, congenital malformations, stillbirths, survival of liveborn infants, chromosomal abnormalities (sex chromosomal abnormalities ...
In insects, the boundary between the embryonic head and thorax is formed by the dorsal ridge, a fused structure composed of portions of the maxillary and labial segments. However, the mechanisms that promote development of this unusual structure remain a mystery. In Drosophila, mutations in the Hox genes Sex combs reduced and Deformed have been reported to ...
Exposures of Limnodynastes tasmaniensis tadpoles to atrazine (0.1, 1, 3 and 30microgL(-1)), metolachlor (0.1, 1 and 10microgL(-1)) and thiobencarb (90, 180 and 360microgL(-1)) from Gosner stage 28 to 42 under controlled laboratory conditions gave no significant effects on tadpole growth, development and sex ratios. A binary mixture of atrazine and ...
... abnormal uterine bleeding? What is a normal menstrual cycle? At what ages is abnormal bleeding more common? ... Bleeding after sex Spotting anytime in the menstrual cycle Bleeding heavier or for more days than normal ...
The most common sex chromosome complex in sex chromatin-positive males with Klinefelter's syndrome is XXY. When the complex is XXYY or XXXY, the clinical findings do not seem to differ materially from those seen in XXY subjects, although more patients with these intersexual chromosome complements need to be studied to establish possible phenotypical ...
Injection of DDT (1, 1, 1-trichloro-2,2-bis(p-chlorophenyl)ethane) into gull eggs at concentrations comparable to those found in contaminated seabird eggs in 1970 induces abnormal development of ovarian tissue and oviducts in male embryos. Developmental feminization of males is associated with inability to breed as adults and may explain the highly skewed ...
This lecture covers information about embryonic development, historical theories of sex determination, sex-chromosomes, and clonal vs. sexual reproduction.
Three dominant second-chromosome rearrangement mutations in Drosophila melanogaster, Aristapedioid1 (Arp), vestigial-Depilate (vgD), and vestigial62 (vg62), result in developmental abnormalities of the bristle sense organs on the notum, abdomen, legs, and wing margin. The bristle abnormalities are associated with overexpression of Suppressor 2 of zeste ...
Disorders of sex development (DSD) with or without ambiguous genitalia require medical attention to reach a definite diagnosis. Advances in identification of molecular causes of abnormal sex, heightened awareness of ethical issues and this necessitated a re-evaluation of nomenclature. The term DSD was proposed for ...
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 ...
USGS Publications Warehouse
This article examines (a) the history of registration and notification statutes for sex offenders and the concerns and legal challenges they have faced, (b) psychology's limited knowledge about normal versus abnormal sexual development, and (c) research that suggests rates of recidivism for sexual offenses may be lower for juveniles ...
Abstract Objective: To investigate possible structural abnormalities of the central auditory pathway in infants with non-syndromic cleft lip and/or palate (NSCL/P). Participants: Twenty seven Chinese infants with NSCL/P, aged from 6 to 24 months. Intervention: Morphological magnetic resonance imaging (MRI) measurements of the central auditory nervous system (CANS) in infants ...
This summary report focuses on current studies on reproductive effects reported at the workshop on Perinatal Exposure to Dioxin-like Compounds and supporting data noted in the discussion. Recent laboratory studies have suggested that altered development (e.g., low birth weight, spontaneous abortion, congenital malformation) and reproductive health (e.g., fertility, ...
... Abnormality diameter (mm ... Psychophysical functions for the detectability of abnormalities of various ... to do this by the preliminary development of user ...
... of social experience early in their life, one can produce abnormalities in their ... causation of abnormal and normal behaviour in the development of an ...
Cross-sectional associations between insulin and ECG abnormalities suggestive of 'possible' and 'probable' coronary heart disease (CHD) in the populations of Nauru (n = 568) and Mauritius (n = 3280) have been examined in both non-diabetic and diabetic subjects. Additionally, the longitudinal relationship between baseline insulin and incident ECG ...
Testosterone is vital to normal growth and development of sex and reproductive organs. It controls the development of secondary male sex characteristics like musculature, bone mass, and vocal chord thickening. Also, testosterone helps maintain energy level, mood, fertility, and sexual desire in both males and ...
There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities. The most important genes controlling the initial phase of gonadal development, identical in females and ...
Background: There is scarce published data on late onset vitiligo. All the studies showing association of audiological abnormalities have been done on younger age group of patients. Aim: To study the clinical characteristics of the patients with late onset vitiligo. Also, to investigate the audiological abnormalities seen in these patients and compare them ...
Between 1970 and 1984, 31 children with biopsy-proven Wilms' tumor received nephrectomy, chemotherapy, and abdominal irradiation and were followed beyond skeletal maturity. Three patients (10%) developed late orthopedic abnormalities requiring intervention. Ten children received orthovoltage irradiation, and all cases requiring orthopedic ...
Ambiguous genitalia of the newborn is the paradigm of a disorder of sex development that demands a multidisciplinary team approach to management. The problem is immediately apparent at birth. Abnormalities of the external genitalia sufficient to warrant genetic and endocrine studies occur in one in 4500 births. In recent decades there ...
Investigation of abnormal sexual development in companion animals can allow for the elimination of inherited disorders from breeding populations while contributing to the understanding of the complex process of mammalian sexual development and differentiation. A 1-year-old mixed-breed cat, presented for neutering, was tentatively ...
BACKGROUND: Environmental or genetic disturbances of early brain development are suggested to underlie the pathophysiology of several adult-onset neuropsychiatric disorders. We traced the developmental trajectories of brain structural and behavioral abnormalities from adolescence to young adulthood in rats born to mothers exposed to the viral mimic ...
... and agencies for Research Development Test and ... to Follow-up of Breast Abnormalities in Low ... with a potential breast abnormality through the ...
... and agencies for Research Development Test and ... to Follow-Up of Breast Abnormalities in Low ... with a potential breast abnormality through the ...
Despite being banned in many countries, dichlorodiphenyltrichloroethane (DDT) and its metabolites dichlorodiphenyldichloroethylene (DDE) and dichlorodiphenyldichloroethane (DDD) continue to be found in fish tissues at concentrations of concern. Like o,p -DDT, o,p -DDE is estrogenic and is believed to exert its effects through binding to the estrogen receptor. The limited toxicologic data for o,p ...
