X/Y translocation in a family with Leri-Weill dyschondrosteosis

Hum Genet. 1999 Oct;105(4):367-8. doi: 10.1007/s004399900113.

Abstract

An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • DNA-Binding Proteins / genetics
  • Female
  • Homeodomain Proteins / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Nuclear Proteins*
  • Osteochondrodysplasias / genetics*
  • Sex-Determining Region Y Protein
  • Short Stature Homeobox Protein
  • Transcription Factors*
  • Translocation, Genetic*
  • X Chromosome / genetics*
  • Y Chromosome / genetics*

Substances

  • DNA-Binding Proteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • SHOX protein, human
  • SRY protein, human
  • Sex-Determining Region Y Protein
  • Short Stature Homeobox Protein
  • Transcription Factors