Case report describes clinical diagnosis and genetic confirmation of Angelman syndrome in children, suggesting insights into its features.
Angelman syndrome is characterized by severe mental retardation, absence of speech, bursts of laughter, ataxia, seizure disorder and facial dysmorphism. This report describes the first 3 children with Angelman syndrome from Bahrain. The diagnosis was based on clinical features and confirmed by the presence of microdeletion of 15q11q13 using fluorescence in situ hybridization.
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Mahmood et al. (2004) studied this question.
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