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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

✍ Scribed by Hilde Van Esch; Marijke Bauters; Jaakko Ignatius; Mieke Jansen; Martine Raynaud; Karen Hollanders; Dorien Lugtenberg; Thierry Bienvenu; Lars Riff Jensen; Jozef Gécz; Claude Moraine; Peter Marynen; Jean-Pierre Fryns; Guy Froyen


Book ID
117854660
Publisher
American Society of Human Genetics
Year
2005
Tongue
English
Weight
672 KB
Volume
77
Category
Article
ISSN
0002-9297

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The etiology of mental retardation remains elusive in the majority of cases. Microdeletions within chromosomal bands 5q14.3q15 were recently identified as a recurrent cause of severe mental retardation, epilepsy, muscular hypotonia, and variable minor anomalies. By molecular karyotyping we identifie