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Ring (15) chromosome

E Yunis, M Leibovici, L Quintero

    Human Genetics
    |January 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    Ring chromosome 15 (r(15)) in a young girl was identified without apparent long arm deletion. Clinical findings in r(15) cases suggest growth retardation, not chromosomal deficiency.

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    Area of Science:

    • Cytogenetics
    • Human Genetics
    • Chromosomal Abnormalities

    Background:

    • Ring chromosome 15 (r(15)) is a rare chromosomal abnormality.
    • Previous studies suggest potential genetic mechanisms for clinical manifestations.

    Observation:

    • Cytogenetic analysis of a 3-year-old girl revealed a stable ring chromosome 15 (r(15)).
    • Banding and silver staining confirmed the r(15) structure, including an NOR at band p12, with no evident deletion on the long arm.
    • A small proportion of cells showed a missing chromosome 15.

    Findings:

    • The r(15) was consistently sized across analyzed cells.
    • Comparison with 11 literature cases indicates consistent, though not always clinically identifiable, manifestations in r(15) patients.
    • Clinical features are likely attributable to intrauterine and postnatal growth retardation.

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    Implications:

    • The findings challenge the assumption that r(15) clinical features are solely due to long arm deletions or mosaicism.
    • Suggests a need to re-evaluate the pathogenic mechanisms of ring chromosome syndromes.
    • Highlights the importance of considering growth patterns in diagnosing chromosomal abnormalities.