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+--- Thread: Genetics 1 - kashmala (/showthread.php?tid=136123)
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0 - ArchivalUser - 11-06-2006
CCCCC
0 - ArchivalUser - 11-06-2006
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.
0 - ArchivalUser - 11-06-2006
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.