Sex chromosome marker: clinical significance and DNA characterization

Am J Med Genet. 1991 Apr 1;39(1):97-101. doi: 10.1002/ajmg.1320390121.

Abstract

Two patients are described with a virtually identical marker sex chromosome that was so small as to defy classification by conventional cytogenetic studies. DNA hybridization with Y probes allows classification into Y or non-Y, and in situ hybridization with X centromere specific sequences, into X or non-X. One patient was proven to have a Y fragment, and the second, an X fragment. DNA characterization is important since prognosis and clinical management depends on proper identification of the small marker sex chromosome.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Banding
  • DNA / analysis*
  • DNA Probes
  • Genetic Markers*
  • Humans
  • Male
  • Nucleic Acid Hybridization
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics*
  • X Chromosome* / chemistry
  • Y Chromosome* / chemistry

Substances

  • DNA Probes
  • Genetic Markers
  • DNA