FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure |
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Authors: | P. Riva I. Magnani A. M. Fuhrmann Conti D. Gelli C. Sala D. Toniolo L. Larizza |
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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 |
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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. |
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Keywords: | FISH ovarian failure X-autosome translocation |
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