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Mosaicism for an extra small ring chromosome

A Forabosco, G Guaraldi, A Baroncini

    Developmental Medicine and Child Neurology
    |February 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

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    A rare genetic condition, mosaicism for an extra small ring chromosome, was identified in a teenage girl with mild physical differences and moderate intellectual disability. The chromosome

    Area of Science:

    • Genetics
    • Cytogenetics
    • Pediatrics

    Background:

    • Mosaicism, characterized by the presence of two or more cell populations with different genotypes, can arise from various chromosomal abnormalities.
    • Small ring chromosomes, often associated with genetic disorders, can lead to diverse clinical presentations depending on the chromosome involved and the degree of mosaicism.

    Observation:

    • A 13-year-old female presented with minimal phenotypic anomalies and moderate mental retardation.
    • Diagnostic evaluation revealed mosaicism for an extra small ring chromosome.

    Findings:

    • The precise origin of the extra small ring chromosome could not be definitively determined through cytogenetic or clinical analysis.
    • This case adds to a limited number of reported instances of small ring chromosome mosaicism, highlighting the variability in clinical outcomes.

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    Implications:

    • Understanding the etiology and clinical spectrum of small ring chromosome mosaicism is crucial for accurate diagnosis and genetic counseling.
    • Further research into the mechanisms underlying ring chromosome formation and stability in mosaic states is warranted.