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.

FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure / P. Riva, I. Magnani, A. M. Fuhrman Conti, D. Gelli, C. Sala, D. Toniolo, L. Larizza. - In: CLINICAL GENETICS. - ISSN 0009-9163. - 50:4(1996 Oct), pp. 267-9-269.

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

P. Riva;I. Magnani;A. M. Fuhrman Conti;L. Larizza
1996-10

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.
Chromosomes, Human, Pair 1; DNA Probes; X Chromosome; Primary Ovarian Insufficiency; Humans; Heterozygote; In Situ Hybridization, Fluorescence; Adolescent; Female; Chromosomes, Artificial, Yeast; Translocation, Genetic
Article (author)
File in questo prodotto:
Non ci sono file associati a questo prodotto.
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/181580
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 15
  • ???jsp.display-item.citation.isi??? ND
social impact