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Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. case report

Cintia Fridman Fernando Kok Aron Diament Célia P. Koiffmann About the authors

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.

Angelman syndrome; chromosome 15; genomic imprinting


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