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X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female
C Turleau1, P Niaudet, M O Cabanis
1U.173 INSERM-UAC.119 CNRS, Hôpital Necker-Enfants-Malades, France.
Clinical Genetics
|June 1, 1989
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.