Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe

J Med Genet. 1994 Mar;31(3):206-8. doi: 10.1136/jmg.31.3.206.

Abstract

Particular regions of the X and Y chromosomes share DNA sequence homology to the extent that cross hybridisation occurs. Thus, chromosome painting with a whole Y chromosome probe consistently results in fluorescence on specific regions of the X chromosome as well as the complete Y chromosome. This phenomenon has been exploited to elucidate the structure of unusual X chromosome rearrangements, without Y involvement, in two females.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Deletion*
  • DNA Probes*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Intellectual Disability / genetics
  • Sex Chromosome Aberrations / genetics
  • X Chromosome / ultrastructure*
  • Y Chromosome*

Substances

  • DNA Probes