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FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure
Authors:P. Riva  I. Magnani  A. M. Fuhrmann Conti  D. Gelli  C. Sala  D. Toniolo  L. Larizza
Affiliation:Dipartimento di Biologia e Genetica per le Scienze Mediche, Universitàdi Milano;Ospedale Niguarda, Milan;DIBIT-HSR, Milan;Istituto di Genetica Biochimica ed Evoluzionistica, CNR, Pavia, Italy
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.
Keywords:FISH    ovarian failure    X-autosome translocation
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