A mosaic 45,X/46,X,r(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique

Hum Genet. 1988 Dec;81(1):81-4. doi: 10.1007/BF00283735.

Abstract

The sex-chromosomal origin of the ring chromosome in a pre-pubertal non-virilized female patient presenting with a 45,X/46,X,r(?) karyotype could not be resolved by conventional cytogenetic (including G11) methods. Non-autoradiographic in situ hybridization of biotinylated X and Y centromere-specific alphoid repetitive sequence probes unequivocally and rapidly identified the ring to be of X origin.

Publication types

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

MeSH terms

  • Adolescent
  • Centromere
  • Chromosome Aberrations*
  • DNA Probes
  • Female
  • Humans
  • Karyotyping
  • Mosaicism*
  • Nucleic Acid Hybridization
  • Ring Chromosomes*
  • Turner Syndrome / genetics*
  • X Chromosome*
  • Y Chromosome*

Substances

  • DNA Probes