Abnormal sex chromosomes

Examples are Down syndrome, Patau syndrome, Klinefelter syndrome and Edward's syndrome. They have a higher than average risk of developing osteoporosis , diabetes, and other autoimmune disorders that are more common in women.


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Williams syndrome is considered a microdeletion syndrome, because the deletion is too small to be seen with a microscope fewer than 5 million bases of DNA are deleted. This technique allows DNA sequences to be labeled with a fluorescent chemical called a probe that lights up when exposed to ultraviolet UV light.



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sex chromosome

The high frequency of people with sex chromosome aberrations is partly due to the fact that they are rarely lethal conditions. The abnormality is not inherited from an affected parent not passed down from parent to child , because women with Turner syndrome are usually sterile and cannot have children. A person with Klinefelter syndrome is an XXY male.

Chromosomal Abnormalities

If the pairs of chromosomes don't line up correctly, or if the chromosome breaks aren't repaired properly, the structure of the chromosome can be altered. Klinefelter syndrome males with more than two X chromosomes usually have extreme symptoms and are often slightly retarded mentally. They are short in stature, averaging 4 foot 7 inches as adults, and often have distinctive webbed necks i.

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2 comments
  1. Like Down syndrome and other autosomal problems, sex chromosome gross abnormalities can be diagnosed before birth by amniocentesis and chorionic villi sampling.