title: Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations.
abstract: 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 possibilities for the carriers and prenatal diagnosis are discussed.
authors.affiliation: Centre de Transfusion Sanguine de Nancy-Brabois, Vandoeuvre les Nancy, France.
authors.forename: S
authors.initials: S
authors.lastname: Gilgenkrantz
authors.forename: C
authors.initials: C
authors.lastname: Blanchet-Bardon
authors.forename: V
authors.initials: V
authors.lastname: Nazzaro
authors.forename: L
authors.initials: L
authors.lastname: Formiga
authors.forename: P
authors.initials: P
authors.lastname: Mujica
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
mesh_terms: D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis