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

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)267-269
Number of pages3
JournalClinical Genetics
Volume50
Issue number4
Publication statusPublished - Oct 1996

Keywords

  • FISH
  • Ovarian failure
  • X-autosome translocation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Riva, P., Magnani, I., Fuhrmann Conti, A. M., Gelli, D., Sala, C., Toniolo, D., & Larizza, L. (1996). FISH characterization of the Xq21 breakpoint in a translocation carrier with premature ovarian failure. Clinical Genetics, 50(4), 267-269.