11-06-2006, 07:34 PM
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Genetics 1 - kashmala
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11-06-2006, 08:03 PM
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He has Klinefelter syndrome, one of the more common chromosomal abnormalities, which occurs in about 1 of 850 liveborn males. The findings can be subtle. The 46,X,i(Xq) is a variant of Turner syndrome (seen only in females), caused by a defective second X chromosome. The 47,XYY karyotype is not uncommon--about 1 in 1000 liveborn males--and is associated with taller than average stature. A person with a mosaic such as 46,XX/ 47,XX,+21 has milder features of Down syndrome than persons with the more typical 47,XX,+21 karyotype. The 22qll deletion syndrome is associated with congenital de- fects affecting the palate, face, and heart, and in some cases, T-cell immunodeficiency.
11-06-2006, 08:03 PM
C
He has Klinefelter syndrome, one of the more common chromosomal abnormalities, which occurs in about 1 of 850 liveborn males. The findings can be subtle. The 46,X,i(Xq) is a variant of Turner syndrome (seen only in females), caused by a defective second X chromosome. The 47,XYY karyotype is not uncommon--about 1 in 1000 liveborn males--and is associated with taller than average stature. A person with a mosaic such as 46,XX/ 47,XX,+21 has milder features of Down syndrome than persons with the more typical 47,XX,+21 karyotype. The 22qll deletion syndrome is associated with congenital de- fects affecting the palate, face, and heart, and in some cases, T-cell immunodeficiency. |
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