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

Authors
Abusaad, I Mohammed, SN Ogilvie, CM Ritchie, J Pohl, KRE Docherty, Z
Citation
I. Abusaad et al., Clinical expression of menkes disease in a girl with X;13 translocation, AM J MED G, 87(4), 1999, pp. 354-359
Citations number
29
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
87
Issue
4
Year of publication
1999
Pages
354 - 359
Database
ISI
SICI code
0148-7299(199912)87:4<354:CEOMDI>2.0.ZU;2-6
Abstract
Menkes disease is a rare X-linked recessive disorder of copper metabolism, characterised by progressive neurological degeneration, abnormal hair and c onnective tissue manifestations. We report on a girl with classic Menkes di sease, 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 Men kes disease and Wilson disease loci, respectively. (C) 1999 Wiley-Liss, Inc .