title: [Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report].
abstract: 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.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo (IBUSP), Brasil. cfridman@usp.br
authors.forename: C
authors.initials: C
authors.lastname: Fridman
authors.forename: F
authors.initials: F
authors.lastname: Kok
authors.forename: A
authors.initials: A
authors.lastname: Diament
authors.forename: C P
authors.initials: CP
authors.lastname: Koiffmann
mesh_terms: 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*
vernacular_title: Síndrome de Angelman. Causa frequentemente não reconhecida de deficiência mental e epilepsia. Relato de caso.