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Inheritance of a ring 14 chromosome

S B Riley, K E Buckton, S G Ratcliffe

    Journal of Medical Genetics
    |June 1, 1981
    PubMed
    Summary
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    This study details a family with ring 14 chromosomes, affecting the mother and her children. This genetic condition is linked to intellectual disability and recurrent pregnancy loss.

    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Reproductive Biology

    Background:

    • Ring chromosome 14 syndrome is a rare chromosomal abnormality.
    • It is associated with intellectual disability, developmental delays, and dysmorphic features.
    • Familial occurrence of ring chromosomes highlights potential genetic predispositions.

    Observation:

    • A family presented with multiple affected members carrying a ring 14 chromosome.
    • The affected individuals included the mother, two live offspring, and a therapeutically aborted fetus.
    • Maternal intelligence was at the lower end of the normal range, and offspring exhibited mental retardation.

    Findings:

    • All affected family members shared the presence of a ring 14 chromosome.
    • The mother experienced two spontaneous abortions, with one fetus being chromosomally normal.

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  • This suggests a complex inheritance pattern or variable expressivity of the ring 14 chromosome.

    • Implications:

    • Ring 14 chromosome presence can lead to significant neurodevelopmental deficits.
    • Recurrent spontaneous abortions may be associated with this chromosomal abnormality.
    • Further research is needed to understand the mechanisms and inheritance of ring 14 chromosome.