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Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation

✍ Scribed by Kay D. MacDermot; Maj Hultén

Publisher
Springer
Year
1990
Tongue
English
Weight
465 KB
Volume
84
Category
Article
ISSN
0340-6717

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✦ Synopsis

We present here a historical documentation of a female with X-linked hypohidrotic ectodermal dysplasia (XHED) and a de novo X/9 chromosome translocation. The patient was verbally reported by Dr. P.L. J. Cook to the HGM conference in 1973, but was subsequently lost to follow up. We have since traced her and confirmed the diagnosis of XHED with moderately severe mental retardation. According to Dr. P. L. J. Cook's records, fibroblast cell line AnLy GMO 705, was derived from this patient. Another female with a de novo X/12 chromosome translocation and hypohidrotic ectodermal dysplasia was recently reported. In both cases, the X chromosome breakpoint appears to be at Xq13.1.

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