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The ring chromosome 13 syndrome

N J Martin, P J Harvey, J H Pearn

    Human Genetics
    |January 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    Ring chromosome 13 syndrome presents a continuous spectrum of clinical and cytogenetic features. This genetic disorder, with breakpoints in 13q21-13q34, has an estimated birth incidence of 1 in 58,000.

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    Area of Science:

    • Genetics
    • Human Genetics
    • Cytogenetics

    Background:

    • Ring chromosome 13 syndrome is a rare chromosomal abnormality.
    • Understanding its clinical and cytogenetic spectrum is crucial for diagnosis and management.

    Observation:

    • Three new unrelated cases of ring chromosome 13 syndrome were studied.
    • Detailed clinical and cytogenetic data were collected and analyzed.
    • Cases were compared with existing literature data.

    Findings:

    • The syndrome exhibits a continuous spectrum, precluding further taxonomic subdivision.
    • Chromosome breakpoints are consistently located between 13q21 and 13q34.
    • Ring chromosome 13 (r(13)) is present in an average of 88% of metaphases, with variations in ring size and centromere number.

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    Implications:

    • The study helps define the clinical boundaries of ring chromosome 13 syndrome.
    • The findings suggest meiotic origin of the ring chromosome in offspring from unaffected parents.
    • An estimated birth incidence of 1 in 58,000 in the Anglo-Saxon population was determined.