Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature

Am J Med Genet. 1997 Jul 11;71(1):1-7. doi: 10.1002/(sici)1096-8628(19970711)71:1<1::aid-ajmg1>3.0.co;2-1.

Abstract

Fluorescence in situ hybridization (FISH) using biotin labeled X- and Y-chromosome DNA probes was utilized in the analysis of 23 sex chromosome-derived markers. Specimens were obtained through prenatal diagnosis, because of a presumptive diagnosis of Ullrich-Turner syndrome, mental retardation, and minor anomalies or ambiguous genitalia; three were spontaneous abortuses. Twelve markers were derived from the X chromosome and eleven from the Y chromosome; this demonstrates successfully the value and necessity of FISH utilizing DNA probes in the identification of sex chromosome markers. Both fresh and older slides, some of which had been previously G-banded, were used in these determinations. We have also reviewed the literature on sex chromosome markers identified using FISH.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Genetic Markers*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Male
  • Sex Chromosomes*
  • Turner Syndrome / genetics

Substances

  • Genetic Markers