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Related Experiment Videos

13q-/r(13) mosaicism

N Niikawa, T Tamura, F Tomiyasu

    Journal of Medical Genetics
    |August 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    This study reports a novel mosaicism in a 13q-syndrome patient, involving deletion and ring chromosome 13. Understanding this genetic mosaicism is crucial for diagnosing and managing chromosome 13 abnormalities.

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    Area of Science:

    • Cytogenetics
    • Human Genetics
    • Pediatric Genetics

    Background:

    • 13q-syndrome is a chromosomal disorder characterized by a deletion on the long arm of chromosome 13.
    • Mosaicism, the presence of two or more cell populations with different genotypes, can complicate genetic diagnoses.

    Observation:

    • A 2-month-old female infant presented with typical features of 13q-syndrome.
    • Genetic analysis revealed a previously unreported mosaicism: 46,XX,del(13)(q22) and 46,XX,r(13)(p13q22).
    • Both the deleted (13q-) and ring (r(13)) chromosomes were Ag-N banding positive, indicating retention of satellite stalks.

    Findings:

    • The study identified a unique mosaic chromosomal abnormality in a patient with 13q-syndrome.
    • Two potential mechanisms for the genesis of this mosaicism were proposed: either the 13q- chromosome formed the r(13) chromosome, or vice versa.

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  • The presence of satellite stalks on both abnormal chromosomes suggests their origin from a common precursor.

    • Implications:

    • This finding expands the known spectrum of chromosomal abnormalities associated with 13q-syndrome.
    • Understanding the mechanisms of mosaicism formation is vital for accurate genetic counseling and diagnosis.
    • Further research into such complex chromosomal rearrangements can improve diagnostic strategies for rare genetic disorders.