Re: a triple translocation-reply 2
From: Kevin.Dalton (kjd5@cus.cam.ac.uk)
Tue Sep 10 11:35:05 1996
On Tue, 10 Sep 1996, T-H Bui, Clinical Genetics, Karolinska Hospital wrote:
> At 14.43 1996-09-09 -0500, Allen Gardner wrote:
>
> >The patient was adapted, so I don't know about her family. I
> >suppose one could argue both ways on this. The more complex
> >the translocation the less likely it is de novo because of
> >all the steps involved, or the more complex it is the less
> >likely it is inherited because meiosis is more difficult to
> >be successful. Do you know of any studies that addressed
> >this?
>
> 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
>
> phone: +46 8 729 4989 or 729 2472 (secretary)
> fax: +46 8 32 77 34
> E-mail: bui@gen.ks.se or The-Hung.Bui@molmed.ki.se
> ******************************************************************
>
>
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