[Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report].
The authors describe the case of a typical Angelman syndrome patient. The proband presents developmental delay, mental retardation, macrostomia, wide-spaced teeth, seizures, absent speech, jerky gait, and paroxysms of laughter. The cytogenetic and molecular studies showed a maternal deletion of 15q11q13. These results are in agreement with the clinical diagnosis of Angelman syndrome.
Fridman
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Departamento de Biologia, Universidade de São Paulo (IBUSP), Brasil. cfridman@usp.br
Kok
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F
Diament
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A
Koiffmann
C P
CP
D017204:Angelman Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002884:Chromosomes, Human, Pair 15; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*
Síndrome de Angelman. Causa frequentemente não reconhecida de deficiência mental e epilepsia. Relato de caso.