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X连锁智力迟钝与神经症状:一种疾病分类学方法

X-linked mental retardation and neurological symptoms: a nosological approach.

作者信息

Schrander-Stumpel C T, Höweler C J, Fryns J P

机构信息

Department of Clinical Genetics, University of Limburg, Maastricht, The Netherlands.

出版信息

Genet Couns. 1995;6(1):21-32.

PMID:7794558
Abstract

Various clinical classifications of XLMR have been reported. In a recent review on X-linked mental retardation (XLMR) genes, 127 conditions featuring XLMR as a primary or major manifestation were listed (32). In our clinical departments, we have a special interest in families of male patients with mental retardation and neurological symptoms. Since the combination of XLMR and neurological manifestations could be found in almost all categories of the previously reported classifications, we outlined a nosological approach meant for those cases where other specific symptoms are lacking.

摘要

已有多种关于X连锁智力发育迟缓(XLMR)的临床分类报道。在最近一篇关于X连锁智力发育迟缓(XLMR)基因的综述中,列出了127种以XLMR为主要或主要表现的病症(32)。在我们的临床科室,我们对患有智力发育迟缓及神经症状的男性患者家庭特别感兴趣。由于XLMR与神经表现的组合几乎可在先前报道的所有分类类别中找到,因此我们概述了一种针对那些缺乏其他特定症状的病例的疾病分类方法。

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