Abstract

FAIFE ABRIL, Lázara Caridad  and  MAYO CHIRINO, Ivón Victoria. Angelman Syndrome. Rev Cubana Med Gen Integr [online]. 2012, vol.28, n.3, pp. 331-339. ISSN 0864-2125.

We report a case of Angelman syndrome, which was diagnosed and confirmed by genetic testing. This patient had rehabilitation at "Senén Casas" center rehabilitation center in Habana Vieja. This patient was diagnosed with cerebral palsy. Further, from the study of persons with mental retardation and other disabilities in 2001, we determined the coincidence of physical and mental traits in with Angelman syndrome this case. The corresponding review and discussion of the literature was carried out, and it was found almost complete coincidence of the features described in the literature, with this case. This diagnosis was confirmed with FISH test (Fluorescent in situ hybridization), which determined the deletion of chromosome 15.

Keywords : Angelman; developmental disabilities; epilepsy; deletion.

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