title: [Angelman's syndrome (happy puppet) in 2 siblings. A follow-up over 10 years].
abstract: The Angelman syndrome or "happy puppet" syndrome is a disorder of severe mental retardation, seizure, paroxysms of laughter, absent speech, jerky movements and ataxic gait. We present two sibs, man and woman, with this disorder, fact that support the possible autosomal recessive inheritance as a cause of this pathology, which hereditary mechanism is still a controversial point. Besides, we can observe different expression, being the woman more severely affected than the man. To our knowledge, this is the first mexican family reported with this syndrome, and with a ten years follow up. Chromosomal studies, with high resolution technique, were normal, we did not find the 15 chromosomic deletion referred as a possible cause in some cases, that is why it is undeniable that genetic heterogeneity exists in this syndrome.
authors.affiliation: Departamento de Genética, Hospital General Dr. Manuel Gea González, México, D. F.
authors.forename: L
authors.initials: L
authors.lastname: Arenas-Sordo M de la
authors.forename: D
authors.initials: D
authors.lastname: Saavedra-Ontiveros
authors.forename: C
authors.initials: C
authors.lastname: Sánchez-Guerrero
authors.forename: M A
authors.initials: MA
authors.lastname: Torres-Carmona
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D008297:Male; D008800:Mexico / Q000453:epidemiology