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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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Hauptverfasser: Gohlke, Bernd (VerfasserIn) , Haug, Karsten Georg (VerfasserIn) , Fukami, Maki (VerfasserIn) , Friedl, Waltraut (VerfasserIn) , Noeker, Meinolf (VerfasserIn) , Rappold, Gudrun (VerfasserIn) , Haverkamp, Fritz (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: August 1, 2000
In: Journal of medical genetics
Year: 2000, Jahrgang: 37, Heft: 8, Pages: 600-602
ISSN:1468-6244
DOI:10.1136/jmg.37.8.600
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1136/jmg.37.8.600
Verlag, lizenzpflichtig, Volltext: https://jmg.bmj.com/content/37/8/600
Volltext
Verfasserangaben:B. C. Gohlke, K. Haug, M. Fukami, W. Friedl, M. Noeker, G. A. Rappold, F. Haverkamp
Beschreibung
Zusammenfassung: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.
Beschreibung:Gesehen am 24.03.2021
Beschreibung:Online Resource
ISSN:1468-6244
DOI:10.1136/jmg.37.8.600

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