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* Genetics 1
 #136123  
  kashmala - 11/06/06 23:02
 
  A 25-year-old male has a work-up for infertility and is
found to have oligospermia. Physical examination findings
include bilateral gynecomastia, reduced testicular size, and
reduced body hair. Karyotypic analysis will most likely
reveal which of the following abnormalities?
A 46,X,i(Xq)
B 47,XYY
C 47,XXY
D 46XX/47XX,+21
E 46,XY,del(22ql 1)
 
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* Re:Genetics 1
#546758
  prams - 11/06/06 23:04
 
  ccccc  
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* Re:Genetics 1
#546822
  step1_ca - 11/06/06 23:33
 
  cc  
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* Re:Genetics 1
#546825
  shawn3387 - 11/06/06 23:34
 
  how come b and c is same?  
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* Re:Genetics 1
#546826
  shawn3387 - 11/06/06 23:34
 
  oh sorry...yeah its c  
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* Re:Genetics 1
#546827
  neoplasia - 11/06/06 23:34
 
  CCCCC  
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* Re:Genetics 1
#546887
  kashmala - 11/07/06 00:03
 
  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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