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 15q1...

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Veröffentlicht in:	Arquivos de neuro-psiquiatria 1997-06, Vol.55 (2), p.329
Hauptverfasser:	Fridman, C, Kok, F, Diament, A, Koiffmann, C P
Format:	Artikel
Sprache:	por
Schlagworte:	Angelman Syndrome - complications Angelman Syndrome - diagnosis Angelman Syndrome - genetics Child Chromosomes, Human, Pair 15 Epilepsy - etiology Female Humans Intellectual Disability - etiology
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Zusammenfassung:	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.
ISSN:	0004-282X
DOI:	10.1590/S0004-282X1997000200025