Síndrome de Angelman. Una causa de retraso mental de origen genético

Abstract

Abstract Objective: To contribute to the knowledge diffusion of Angelman syndrome as one of the conditions accounting for mental retardation of genetic origin. Patients and methods: We report three cases, two females and one male, with clinical pictures consistent with Angelman syndrome, whose diagnosis was confirmed by genetic studies. Comments: The more marked clinical manifestations of Angelman syndrome are: severe mental retardation, walking delay, an almost complete absence of language, frequent epileptic seizures, laughing face with prominent chin, and flat back of head. The disease is caused by a deletion on chromosome 15 (15 q 11.2-13), which is identical ?or even the same? to that reported in patients with Prader-Willi syndrome, although inherited from the mother (in the Prader-Willi syndrome, deletion is transmitted from the father), what is known as genomic imprinting. In the general population, prevalence is estimated to be 1/10.000-20.000. Conclusions: The association of mental retardation with a peculiar phenotype like that described above should make us think of Angelman syndrome, a condition whose diagnosis can be confirmed, in most cases, by an adequate genetic study.