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[Fragile X and autistic mental retardation].

M Yvonneau, M Grasset, M Ben Hamida

    L'Encephale
    |January 1, 1984
    PubMed
    Summary
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    Fragile X syndrome, a genetic condition, affects 1-6% of mental defects with distinct physical and cognitive features. Chromosomal fragility in X long arms is observed in affected individuals, impacting language and potentially leading to autistic psychoses.

    Area of Science:

    • Genetics
    • Clinical Medicine

    Background:

    • Fragile X syndrome is a genetic disorder associated with specific physical and cognitive characteristics.
    • It is linked to a chromosomal abnormality on the long arms of the X chromosome.

    Observation:

    • The study describes a distinct phenotype including a long narrow face, large ears, pale irides, macro-orchidism, and intellectual disability.
    • Fragile X chromosomal abnormality (fragility in Xq27-28 bands) is detected in 5-60% of cultured lymphocytes in affected individuals.
    • This abnormality is less frequently identified in female carriers.

    Findings:

    • The observed features align with the description of Renpenning syndrome.
    • Autistic psychoses can manifest in some individuals with this condition, with the mental defect being central to its origin or expression.

    Related Experiment Videos

  • Two personal cases are presented, one with a wide span similar to a previously reported 'normal' case.

    • Implications:

    • Highlights the genetic basis of certain mental defects and their phenotypic expression.
    • Emphasizes the importance of cytogenetic analysis in diagnosing conditions like Fragile X syndrome.
    • Suggests a potential link between Fragile X syndrome, intellectual disability, and autistic psychoses, warranting further investigation.