Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy
Open Access
- 1 August 2000
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 37 (8) , 600-602
- https://doi.org/10.1136/jmg.37.8.600
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 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.Keywords
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