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  1. Angelman syndrome : Are the estimates too low ?

    Article - En anglais

    More than 300 cases of Angelman Syndrome (AS) have been reported.

    AS is still considered a clinical diagnosis because only approximately 80% of those individuals who meet the clinical criteria will have a maternal deletion of chromosome 15q11-13.

    Of the reported cases of AS, very few are of adults with AS.

    We present our findings on 11 adults with AS identified in a long-term residential care facility for persons with severe developmental disabilities.

    The diagnosis of AS was not recognized at the time of their admission but was established as part of our evaluation.

    Thus, there may be an underestimate of the true incidence of AS especially in adults with severe developmental diabilities.

    Mots-clés Pascal : Happy puppet syndrome, Adulte, Homme, Diagnostic, Trouble développement, Etiologie, Incidence, Arriération mentale, Déterminisme génétique, Chromosome D15, Gène, Mutation, Exploration, Phénotype, Evolution, Aide diagnostic, Système nerveux pathologie, Système nerveux central pathologie, Encéphale pathologie, Maladie congénitale, Malformation, Syndrome complexe, Déficience intellectuelle

    Mots-clés Pascal anglais : Happy puppet syndrome, Adult, Human, Diagnosis, Developmental disorder, Etiology, Incidence, Mental retardation, Genetic determinism, Chromosome D15, Gene, Mutation, Exploration, Phenotype, Evolution, Diagnostic aid, Nervous system diseases, Central nervous system disease, Cerebral disorder, Congenital disease, Malformation, Complex syndrome, Intellectual deficiency

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 99-0037603

    Code Inist : 002B23C. Création : 31/05/1999.