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Re: a triple translocation-reply 2From: T-H Bui, Clinical Genetics, Karolinska Hospital (bui@gen.ks.se)Tue Sep 10 04:05:34 1996
At 14.43 1996-09-09 -0500, Allen Gardner wrote:
>The patient was adapted, so I don't know about her family. I Allen, Sorry, I was distracted by the misspelling in your original note ('adapted' should, of course, be read 'adopted'). Obviously, familial as well as de novo CCR cases have been reported (see ref. in my previous reply). Although there may be an ascertainment bias, at least in the male very complex CCRs have been mostly found in sterile individuals. This suggests that the second mechanism is more common, and it is our own (limited, n= 8 for the last 25 years) experience. Your case is interesting because of the X-autosome rearrangement which may lead to functional (partial) disomies of the X chromosome in some cells (and possibly signs of gonadal dysgenesis, what about her hormonal profile? Normal size ovaries on U/S?). You may be interested in the review of Schmidt and Du Sart (Am J Med Genet 42:161-169, 1992) on this subject. ***************************************************************** The-Hung Bui, M.D. Associate Head Physician -- Department of Clinical Genetics Karolinska Hospital S-171 76 Stockholm, Sweden
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