Human Genetics

, Volume 81, Issue 2, pp 120–122

Hypohidrotic ectodermal dysplasia

Clinical study of a family of 30 over three generations
  • Simone Gilgenkrantz
  • Claudine Blanchet-Bardon
  • V. Nazzaro
  • Lorena Formiga
  • Patricia Mujica
  • Y. Alembik
Original Investigations

DOI: 10.1007/BF00293886

Cite this article as:
Gilgenkrantz, S., Blanchet-Bardon, C., Nazzaro, V. et al. Hum Genet (1989) 81: 120. doi:10.1007/BF00293886

Summary

A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11–21 region carried out on 30 members of the family. Current screening possiblitities for the carriers and prenatal diagnosis are discussed.

Copyright information

© Springer-Verlag 1989

Authors and Affiliations

  • Simone Gilgenkrantz
    • 1
  • Claudine Blanchet-Bardon
    • 2
  • V. Nazzaro
    • 2
  • Lorena Formiga
    • 1
  • Patricia Mujica
    • 1
  • Y. Alembik
    • 3
  1. 1.Centre de Transfusion Sanguine de Nancy-BraboisLaboratoire de GénétiqueVandoeuvre les NancyFrance
  2. 2.Clinique des maladies cutanéesHôpital Saint LouisParisFrance
  3. 3.Institut de Chimie BiologiqueFaculté de MédecineStrasbourgFrance