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

Authors
Gohlke, BC Haug, K Fukami, M Friedl, W Noeker, M Rappold, GA Haverkamp, F
Citation
Bc. Gohlke et al., Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy, J MED GENET, 37(8), 2000, pp. 600-602
Citations number
15
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
JOURNAL OF MEDICAL GENETICS
ISSN journal
00222593 → ACNP
Volume
37
Issue
8
Year of publication
2000
Pages
600 - 602
Database
ISI
SICI code
0022-2593(200008)37:8<600:IDIXIA>2.0.ZU;2-Y
Abstract
We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyo sis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning a pproximately 3 Mb. Recently the locus was further refined to an approximate ly 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gen e markers in our patients we succeeded in narrowing down the locus to betwe en DXS6837 and GS1.