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X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female |
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| Authors: | Catherine Turleau P. Niaudet Marie-Odile Cabanis Ghislaine Plessis D. Cau J. de Grouchy |
| Affiliation: | U.173 INSERM-UAC.119 CNRS, H?pital Necker-Enfants-Malades, France. |
| 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. |
| Keywords: | hypohidrotic ectodermal dysplasia X-autosome translocation |