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Clinical expression of Menkes disease in a girl with X;13 translocation

✍ Scribed by Abusaad, Iman; Mohammed, Shehla N.; Ogilvie, Caroline Mackie; Ritchie, Jane; Pohl, Keith R.E.; Docherty, Zoe

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 49 KB
Volume: 87
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19991203)87:4<354::aid-ajmg14>3.0.co;2-y

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✦ Synopsis

Menkes disease is a rare X-linked recessive disorder of copper metabolism, characterised by progressive neurological degeneration, abnormal hair and connective tissue manifestations. We report on a girl with classic Menkes disease, carrying a de novo balanced translocation 46,X,t(X;13)(q13.3; q14.3). The translocation breakpoints at Xq13.3 and 13q14.3 coincide with the Menkes disease and Wilson disease loci, respectively. Am. J. Med. Genet. 87:354-359, 1999.

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