Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. Issue 8 (1st August 2000)

• Record Type: Journal Article
• Authors: Gohlke, B C; Haug, K; Fukami, M; Friedl, W; Noeker, M; Rappold, G A; Haverkamp, F
• Is Part Of: Journal of medical genetics. Volume 37:Issue 8(2000)
• Page Start: 600
• Page End: 602
• Publication Date: 2000-08-01
• Subjects: Xp22.3 deletion -- X linked mental retardation -- X linked ichthyosis -- epilepsy -- Rudd syndrome; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.37.8.600
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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 .