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X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female
J Limon1, J Filipiuk, B Nedoszytko
1Department of Biology and Genetics, Medical Academy, Gdańsk, Poland.
Human Genetics
|July 1, 1991
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.