一名患有X;13易位的女孩的门克斯病临床表型。

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

作者信息

Abusaad I, Mohammed S N, Ogilvie C M, Ritchie J, Pohl K R, Docherty Z

机构信息

South Thames (East) Regional Genetics Centre, Division of Medical and Molecular Genetics, Guy's Hospital, London, United Kingdom.

出版信息

Am J Med Genet. 1999 Dec 3;87(4):354-9.

PMID:10588844

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.

摘要

门克斯病是一种罕见的X连锁隐性铜代谢障碍疾病，其特征为进行性神经退行性变、毛发异常和结缔组织表现。我们报告了一名患有典型门克斯病的女孩，她携带一条新发的平衡易位染色体46,X,t(X;13)(q13.3; q14.3)。Xq13.3和13q14.3处的易位断点分别与门克斯病和威尔逊病基因座重合。