X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female

Hum Genet. 1991 Jul;87(3):338-40. doi: 10.1007/BF00200916.

Abstract

A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Ectodermal Dysplasia / genetics*
  • Female
  • Genetic Linkage*
  • Humans
  • Karyotyping
  • Translocation, Genetic
  • X Chromosome*