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Published on: August 15, 2019
Clinical expression of Menkes disease in a girl with X;13 translocation
I Abusaad1, S N Mohammed, C M Ogilvie
1South Thames (East) Regional Genetics Centre, Division of Medical and Molecular Genetics, Guy's Hospital, London, United Kingdom.
Abstract:
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.
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