Angelman syndrome

Neurosciences (Riyadh). 2004 Oct;9(4):319-21.

Abstract

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.