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Re: a triple translocationFrom: T-H Bui, Clinical Genetics, Karolinska Hospital (bui@gen.ks.se)Mon Sep 9 09:35:52 1996
At 08.49 1996-09-08 -0500, Allen Gardner wrote: > >Has anyone had anything similar? >A 40 yr. old woman studied b/o infertility. Husband normal, but she has >t(X;3;11)(p11.4;q12;q12). She is adapted i.e. no family history. Your patient is carrier of complex chromosome rearrangements( CCR) which has been defined as structural rearrangements involving at least three chromosomes and three or more chromosome breakpoints. CCR appears to be balanced in your patient as I can understand (was it de novo or familial?). The reproductive risks in CCR carriers have been investigated by Gorski et al. (Am J Med Genet 1988;29:247-261). We have seen at this department a few such cases ascertained mostly through repeated spontaneous abortions, although in a few cases it was through dysmorphic children with unbalanced recombinant chromosomes. Because it may difficult to determined the breakpoints even with pro-metaphase analysis, FISH-analysis using specific whole chromosome probes may be necessary. There is a possibility of microdeletion at Xp11.4 or a position effect (especially if this is a denovo case) that may be associated with the infertility (is it primary?). If you have some good probes covering the breakpoint on the X-chromosome you may wish to test whether there is a microdeletion. You should also consider doing a study on peripheral lymphocytes for X-inactivation (is it the normal X or the der(X) in some cells?). ***************************************************************** The-Hung Bui, M.D. Associate Head Physician -- Department of Clinical Genetics Karolinska Hospital S-171 76 Stockholm, Sweden
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