%0 Journal Article
%T S赤ndrome de Angelman Angelman Syndrome
%A L芍zara Caridad Faife Abril
%A Iv車n Victoria Mayo Chirino
%J Revista Cubana de Medicina General Integral
%D 2012
%I ECIMED
%X Se realiza la presentaci車n de un caso de s赤ndrome de Angelman, diagnosticado y confirmado por pruebas gen谷ticas, que realiz車 su rehabilitaci車n en el centro "Sen谷n Casas Regueiro" de La Habana Vieja. La paciente fue diagnosticada con una par芍lisis cerebral y posteriormente, a partir del estudio realizado a personas con retraso mental y otras discapacidades en el a o 2001, se determina la coincidencia de los rasgos f赤sicos y mentales del caso, con el s赤ndrome de Angelman. Se hace la revisi車n y discusi車n de la literatura al respecto, y se encuentra coincidencia casi total de los rasgos descritos en la bibliograf赤a, con el caso presentado. Se confirma este diagn車stico con la prueba FISH (Fluorescent in situ hybridization), que determin車 la delecci車n del cromosoma 15. We report a case of Angelman syndrome, which was diagnosed and confirmed by genetic testing. This patient had rehabilitation at "Sen谷n 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.
%K Angelman
%K deficiencias del desarrollo
%K epilepsia
%K delecci車n cromosoma 15
%K Angelman
%K developmental disabilities
%K epilepsy
%K deletion
%U http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-21252012000300013