Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

被引：29

作者：

Gohlke, BC

Haug, K

Fukami, M

Friedl, W

Noeker, M

Rappold, GA

Haverkamp, F

机构：

[1] Univ Bonn, Dept Paediat, D-5300 Bonn, Germany

[2] Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany

[3] Heidelberg Univ, Inst Human Genet, D-6900 Heidelberg, Germany

来源：

JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 08期

关键词：

Xp22.3; deletion; X linked mental retardation; X linked ichthyosis; epilepsy; Rudd syndrome;

D O I：

10.1136/jmg.37.8.600

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 and GS1.

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收藏

页码：600 / 602

页数：3

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