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

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 betweenSTS and DXS31 spanning ap...

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Bibliographic Details
Main Authors: Gohlke, Bernd (Author) , Haug, Karsten Georg (Author) , Fukami, Maki (Author) , Friedl, Waltraut (Author) , Noeker, Meinolf (Author) , Rappold, Gudrun (Author) , Haverkamp, Fritz (Author)
Format: Article (Journal)
Language:English
Published: August 1, 2000
In: Journal of medical genetics
Year: 2000, Volume: 37, Issue: 8, Pages: 600-602
ISSN:1468-6244
DOI:10.1136/jmg.37.8.600
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1136/jmg.37.8.600
Verlag, lizenzpflichtig, Volltext: https://jmg.bmj.com/content/37/8/600
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Author Notes:B. C. Gohlke, K. Haug, M. Fukami, W. Friedl, M. Noeker, G. A. Rappold, F. Haverkamp
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Summary: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 betweenSTS 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 andGS1.
Item Description:Gesehen am 24.03.2021
Physical Description:Online Resource
ISSN:1468-6244
DOI:10.1136/jmg.37.8.600

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