FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure.
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.
Riva
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Dipartimento di Biologia e Genetica per le Scienze Mediche, Università di Milano, Italy.
Magnani
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I
Fuhrmann Conti
A M
AM
Gelli
D
D
Sala
C
C
Toniolo
D
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Larizza
L
L
D000293:Adolescent; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D015342:DNA Probes; D005260:Female; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome / Q000235:genetics*
D015342:DNA Probes