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

Clin Genet. 1996 Oct;50(4):267-9. doi: 10.1111/j.1399-0004.1996.tb02642.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Chromosomes, Artificial, Yeast / genetics
  • Chromosomes, Human, Pair 1 / genetics
  • DNA Probes
  • Female
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Primary Ovarian Insufficiency / genetics*
  • Translocation, Genetic*
  • X Chromosome / genetics*

Substances

  • DNA Probes

Grants and funding