title: X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.
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.
authors.affiliation: Department of Biology and Genetics, Medical Academy, Gdańsk, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Limon
authors.forename: J
authors.initials: J
authors.lastname: Filipiuk
authors.forename: B
authors.initials: B
authors.lastname: Nedoszytko
authors.forename: K
authors.initials: K
authors.lastname: Mrózek
authors.forename: M
authors.initials: M
authors.lastname: Castrén
authors.forename: M
authors.initials: M
authors.lastname: Larramendy
authors.forename: J
authors.initials: J
authors.lastname: Roszkiewicz
mesh_terms: D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007621:Karyotyping; D014178:Translocation, Genetic; D014960:X Chromosome