MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome:: assignment of disease locus to Xp21.1-p22.13

被引：39

作者：

Steinmüller, R ^{[1
]}

Steinberger, D ^{[1
]}

Müller, U ^{[1
]}

机构：

[1] Justus Liebig Univ, Inst Humangenet, D-35392 Giessen, Germany

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 1998年 / 6卷 / 03期

关键词：

X-linked mental retardation; epilepsy; hypogonadism; microcephaly; obesity; X-chromosome;

D O I：

10.1038/sj.ejhg.5200180

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A previously unrecognised X-chromosomal mental retardation syndrome is described, Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism, and -genitalism, microcephaly and obesity. Life expectancy of patients is less than two years. Based on the major clinical symptoms this condition is referred to by the acronym MEHMO. Haplotype and two-point linkage analyses in a large three-generation family assign the disease locus to Xp21.1-p22.13, to a region that is flanked by CYBB and DXS365.

引用

页码：201 / 206

页数：6

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