1.
Neurosciences (Riyadh)
; 9(4): 319-21, 2004 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23377257
RESUMO
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.