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X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female

✍ Scribed by Janusz Limon; Jadwiga Filipiuk; Bogustaw Nedoszytko; Krzysztof Mrózek; Maija Castrén; Marcelo Larramendy; Jadwiga Roszkiewicz

Publisher
Springer
Year
1991
Tongue
English
Weight
582 KB
Volume
87
Category
Article
ISSN
0340-6717

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✦ Synopsis

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 Xql3.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations.

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