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About 1 in 400 male and 1 in 650 female live births demonstrate some form of sex chromosome abnormality, although the symptoms of these conditions are generally much less severe than are those associated with autosomal abnormalities. Turner syndrome is a condition of females who, in the classic form, carry only a single x chromosome (45,x). Author information (1)department of genetics, kaiser permanente, san jose medical center, san jose, ca 95123, usa. Org this article focuses on constitutional sex chromosome abnormalities detected by conventional cytogenetics and fluorescence in situ hybridization. Sex chromosome abnormalities occur as a result of chromosome mutations brought on by mutagens (like radiation) or problems that occur during meiosis. The broken chromosome fragment may be deleted, duplicated, inverted, or translocated to a non-homologous chromosome. Sex chromosomes and sex chromosome abnormalities xu li, md, phd xu. Org, department of genetics, kaiser permanente, san jose medical center, san jose, ca 95123, usa keywords sex chromosome sex chromosome abnormalities x-inactivation mosaicism x-linked mental retardation the x and y chromosomes are the two sex chromosomes in humans. Sex chromosome numerical abnormalities klinefelter syndrome (47,xxy) is the most common sex chromosome numerical abnormality in males, occurring in 1 in 1000 males. It is often diagnosed by chromosome analysis following a referral for infertility or gynecomastia. Male sex chromosome abnormalities klinefelter syndrome males inherit one or more extra x chromosomes--their genotype is xxy or more rarely xxxy or xyxxy mosaic. In severe cases, t hey have relatively high-pitched voices, asexual to feminine body contours as well as breast enlargement, and comparatively little facial and body hair. Sex chromosome abnormalities occur rather frequently and turner syndrome (ts) is seen in about 50 per 100 000 females, klinefelter syndrome (ks) in 150 per 100 000 males, 47,xxx in 85 per 100 000 females, and 47,xyy in 100 per 100 000 males with 47,xyy. Patients with sex chromosome abnormalities are frequently seen by many parties in the health care system. 23 pairs, one from each parents, and biological sex is usually determined by one of the mothers x chromosomes and the fathers x or y chromosome. Sex chromosome abnormalities occur when theres a problem during egg or sperm production. Sex chromosome abnormalities occur when an egg or sperm has too few or too many. Sex-chromosome abnormalities are frequent and give rise to two well-defined syndromes, turner and klinefelter syndromes, and other less well-defined syndromes such as 47,xxx and 47,xyy syndromes and other conditions with mosaicism, translocations or additional sex chromosomes.

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