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FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure.

作者信息

Riva P, Magnani I, Fuhrmann Conti A M, Gelli D, Sala C, Toniolo D, Larizza L

机构信息

Dipartimento di Biologia e Genetica per le Scienze Mediche, Università di Milano, Italy.

出版信息

Clin Genet. 1996 Oct;50(4):267-9. doi: 10.1111/j.1399-0004.1996.tb02642.x.

DOI:10.1111/j.1399-0004.1996.tb02642.x
PMID:9001815
Abstract

A panel of ordered YAC clones, isolated using STSs in the Xq13-Xq23 region, was used to characterize by Fluorescent In Situ Hybridization (FISH) the Xq21 breakpoint in a t(X;1)(q21;p34) translocation female with premature ovarian failure. The YAC 949E11 was found to span the breakpoint, but also to join the two non-overlapping YACs 36CB1 and 40AB3, proximal and distal, respectively, to the patient's Xq21 breakpoint.

摘要

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