title: X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.
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.
authors.affiliation: U.173 INSERM-UAC.119 CNRS, Hôpital Necker-Enfants-Malades, France.
authors.forename: C
authors.initials: C
authors.lastname: Turleau
authors.forename: P
authors.initials: P
authors.lastname: Niaudet
authors.forename: M O
authors.initials: MO
authors.lastname: Cabanis
authors.forename: G
authors.initials: G
authors.lastname: Plessis
authors.forename: D
authors.initials: D
authors.lastname: Cau
authors.forename: J
authors.initials: J
authors.lastname: de Grouchy
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D007674:Kidney Diseases / Q000209:etiology; D014178:Translocation, Genetic; D014960:X Chromosome