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
answer:
-23 yr old women with mental retardation and unusual appearance is 10 wks
pregnant
-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
