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