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: | , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
August 1, 2000
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| 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 
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| Verfasserangaben: | B. C. Gohlke, K. Haug, M. Fukami, W. Friedl, M. Noeker, G. A. Rappold, F. Haverkamp |
MARC
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| 245 | 1 | 0 | |a Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy |c B. C. Gohlke, K. Haug, M. Fukami, W. Friedl, M. Noeker, G. A. Rappold, F. Haverkamp |
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| 520 | |a 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. | ||
| 650 | 4 | |a epilepsy | |
| 650 | 4 | |a Rudd syndrome | |
| 650 | 4 | |a X linked ichthyosis | |
| 650 | 4 | |a X linked mental retardation | |
| 650 | 4 | |a Xp22.3 deletion | |
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