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  1. Applicability of a checklist for clinical screening of the fragile X syndrome.

    Article - En anglais

    In a population of 340000 in Southern Häme, Finland, there were 541 intellectually disabled adult males (>16 years) known to the District Organisation for the Care of the Mentally Retarded in August 1993.

    Of these, 197 already had a confirmed etiological diagnosis, with 20 having the fragile X syndrome.

    The other 344 males were screened for the fragile X syndrome using a three-step method : a clinical checklist used by a specialist nurse, a clinical examination by a physician who was very familiar with the fragile X syndrome, and the FRAXA-locus gene test.

    Six new fragile X males were found.

    The minimum prevalence of the fragile X syndrome in the district was calculated to be 1 : 4400.

    Mots-clés Pascal : X fragile syndrome, Homme, Dépistage, Mâle, Finlande, Europe, Fragilité chromosomique

    Mots-clés Pascal anglais : Fragile X syndrome, Human, Medical screening, Male, Finland, Europe, Chromosome fragility

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

    Cote : 97-0538539

    Code Inist : 002B23C. Création : 24/03/1998.