RT Journal Article
SR Electronic
T1 Angelman syndrome
JF Neurosciences Journal
JO Neurosciences (Riyadh)
FD Prince Sultan Military Medical City
SP 319
OP 321
VO 9
IS 4
A1 Mahmood, Fatima N.
A1 Ali, Fouad A.
A1 Ali, Ayman K.
YR 2004
UL http://nsj.org.sa/content/9/4/319.abstract
AB 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.