Isodicentric Y chromosome in an Ullrich-Turner patient without virilization

Am J Med Genet. 2000 Mar 13;91(2):99-101. doi: 10.1002/(sici)1096-8628(20000313)91:2<99::aid-ajmg3>3.0.co;2-c.

Abstract

We report on a 17-year-old young woman with Ullrich-Turner syndrome (UTS), who was found to have a karyotype 45,X/46,X,idic(Y)(q11). She had age-appropriate genitalia without virilization in spite of the presence of the Y-derived marker chromosome and SRY locus in 70% of her lymphocytes. Having reviewed the literature, we conclude that a possible explanation for the lack of virilization in these mosaic patients is most likely an uneven distribution of tissue mosaicism (gonadal mosaicism).

Publication types

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

MeSH terms

  • Adolescent
  • DNA-Binding Proteins / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Isochromosomes*
  • Mosaicism
  • Nuclear Proteins*
  • Sex-Determining Region Y Protein
  • Transcription Factors*
  • Turner Syndrome / genetics*
  • Virilism / genetics
  • Y Chromosome*

Substances

  • DNA-Binding Proteins
  • Nuclear Proteins
  • SRY protein, human
  • Sex-Determining Region Y Protein
  • Transcription Factors