Fluorescent in-situ hybridization and sequence-tagged sites for delineation of an X:Y translocation in a patient with secondary amenorrhoea

Mol Hum Reprod. 1997 May;3(5):439-43. doi: 10.1093/molehr/3.5.439.

Abstract

We describe a phenotypically normal female with secondary amenorrhoea due to a translocation of genetic material involving the long arm of chromosome X (Xq28) and the long arm of chromosome Y (Yq11). We used fluorescent in situ hybridization to localize the breakpoint on the Xq. The Y chromosome breakpoint was identified using polymerase chain reaction (PCR) detection of sequence-tagged sites (STS) specific for interval 5 at Yq11.21. The relationship between this X:Y translocation and premature ovarian failure is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amenorrhea / genetics*
  • Chromosome Banding
  • Chromosome Mapping
  • DNA / genetics
  • Female
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Phenotype
  • Polymerase Chain Reaction
  • Sequence Tagged Sites
  • Translocation, Genetic*
  • X Chromosome / genetics*
  • Y Chromosome / genetics*

Substances

  • Genetic Markers
  • DNA