High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis

Fertil Steril. 2008 Feb;89(2):458-60. doi: 10.1016/j.fertnstert.2007.02.058. Epub 2007 May 25.

Abstract

A higher incidence of Y-chromosome microdeletions was found on gonadal DNA than on peripheral blood lymphocyte DNA and on streak gonads than on dysgenetic testis in 11 patients with 45,X/46,XY gonadal dysgenesis. It is probable that an association between Y-chromosome microdeletions and severity of the phenotype in 45,X/46,XY patients exists.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Y*
  • DNA / analysis
  • Female
  • Gene Frequency
  • Gonadal Dysgenesis, Mixed / genetics*
  • Gonadal Dysgenesis, Mixed / metabolism
  • Gonads / metabolism*
  • Humans
  • Male
  • Mosaicism

Substances

  • DNA