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Alpha-Thalassämie-Retardierungs-Syndrom |
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| Authors: | Dr N Dikow C Junge S Karch K Hinderhofer UG Froster U Moog |
| Institution: | 1. Institut für Humangenetik, Universit?tsklinikum Heidelberg, Im Neuenheimer Feld 366, 69120, Heidelberg, Deutschland 2. Institut für Humangenetik, Universit?tsklinikum Leipzig, Leipzig, Deutschland 3. Zentrum für Kinder- und Jugendmedizin, Universit?tsklinikum Heidelberg, Heidelberg, Deutschland |
| Abstract: | Alpha-thalassemia X-linked mental retardation (ATRX, MIM#301040) syndrome is associated with severe mental retardation, muscular hypotonia, facial dysmorphism, and genital anomalies in males. We present the case of a family with two affected boys. The diagnosis was made by maternal X-chromosome inactivation studies which showed marked skewing of maternal X-chromosome inactivation and ATRX analysis revealed a novel mutation in exon 34. |
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