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
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.
引用
收藏
页码:600 / 602
页数:3
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