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  1. Fragile X syndrome. I. An overview on its genetic mechanism.

    Article - En anglais

    A large body of literature has accumulated within the last decade concerning the fragile X syndrome, the most common cause of X-linked mental retardation.

    The first article of this review summarizes the peculiar genetic mechanisms and molecular biology properties (eg, unstable DNA triplet repeats), which have been characterized since the detection of the FMR-1 gene in 1991.

    However, the most important question concerning the function of the FMR-1 gene is still an unresolved issue and is in need of future research.

    The second article of this review addresses the clinical picture, neuropsychological functioning and psychopathological characteristics of pre-and full mutation carriers.

    Mots-clés Pascal : X fragile syndrome, Article synthèse, Arriération mentale, Trouble développement, Epidémiologie, Historique, Déterminisme génétique, Carte génétique, Méthode étude, Réaction chaîne polymérase, Diagnostic, Homme, Fragilité chromosomique, Gène FMR1

    Mots-clés Pascal anglais : Fragile X syndrome, Review, Mental retardation, Developmental disorder, Epidemiology, Case history, Genetic inheritance, Genetic mapping, Investigation method, Polymerase chain reaction, Diagnosis, Human, Chromosome fragility

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

    Cote : 96-0438240

    Code Inist : 002B18C12. Création : 10/04/1997.