X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female

Clin Genet. 1989 Jun;35(6):462-6. doi: 10.1111/j.1399-0004.1989.tb02973.x.

Abstract

A female patient with features of hypohidrotic ectodermal dysplasia (HED) was found to be a carrier of a de novo t(X;12) with a breakpoint in Xq13.1. This is the second instance of an X/autosome translocation, with apparently the same X breakpoint, reported in HED.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Banding
  • Ectodermal Dysplasia / complications
  • Ectodermal Dysplasia / genetics*
  • Ectodermal Dysplasia / pathology
  • Female
  • Humans
  • Karyotyping
  • Kidney Diseases / etiology
  • Translocation, Genetic*
  • X Chromosome*