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Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy
  1. B C Gohlkea,
  2. K Haugb,
  3. M Fukamic,
  4. W Friedlb,
  5. M Noekera,
  6. G A Rappoldc,
  7. F Haverkampa
  1. aDepartment of Paediatrics, University of Bonn, Germany, bInstitute for Human Genetics, University of Bonn, Germany, cInstitute for Human Genetics, University of Heidelberg, Germany
  1. Dr Haverkamp, Zentrum für Kinderheilkunde der Universität Bonn, Adenauerallee 119, 53113 Bonn, Germany, f.haverkamp{at}uni-bonn.de

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.

  • Xp22.3 deletion
  • X linked mental retardation
  • X linked ichthyosis
  • epilepsy
  • Rudd syndrome

https://doi.org/10.1136/jmg.37.8.600

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