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Microdeletion question

Erik Nathan Swartz enswartz at unixg.ubc.ca
Mon Feb 24 20:19:46 EST 1997

I got the question in a problem set in my medical genetics course (2nd 
year medicine), and I was wondering if I'm on the right track with the 

-23 yr old women with mental retardation and unusual appearance is 10 wks 
-FISH testing shows her to have a microdeletion on the proximal arm of 
chromosome 7
-negative family history
-partner is healthy with chromosomal analysis of 46, XY
-What is the risk of recurrence of this woman's condition in her child?

I would say 50%, but I feel I may be missing some important point.

Thanks in advance for your help.

Erik Swartz
UBC Medicine
Vancouver, Canada

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