Original Investigations

Human Genetics

, Volume 81, Issue 2, pp 120-122

Hypohidrotic ectodermal dysplasia

Clinical study of a family of 30 over three generations
  • Simone GilgenkrantzAffiliated withCentre de Transfusion Sanguine de Nancy-Brabois, Laboratoire de Génétique
  • , Claudine Blanchet-BardonAffiliated withClinique des maladies cutanées, Hôpital Saint Louis
  • , V. NazzaroAffiliated withClinique des maladies cutanées, Hôpital Saint Louis
  • , Lorena FormigaAffiliated withCentre de Transfusion Sanguine de Nancy-Brabois, Laboratoire de Génétique
  • , Patricia MujicaAffiliated withCentre de Transfusion Sanguine de Nancy-Brabois, Laboratoire de Génétique
  • , Y. AlembikAffiliated withInstitut de Chimie Biologique, Faculté de Médecine

Rent the article at a discount

Rent now

* Final gross prices may vary according to local VAT.

Get Access

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.