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Mosaic tetrasomy 12p.

S Gilgenkrantz, P Droulle, M Schweitzer

    Clinical Genetics
    |December 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

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    Mosaic tetrasomy 12p, also known as Pallister mosaic syndrome, is a rare genetic disorder. This study reports the first prenatal diagnosis, aiding in understanding and managing this condition.

    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Mosaic tetrasomy 12p, a rare genetic condition, presents with distinct dysmorphic features.
    • It has been previously referred to as Pallister mosaic syndrome and Teschler-Nicola/Killian syndrome.
    • Misdiagnosis can occur, with confusion with tetrasomy 21.

    Observation:

    • This report details the first prenatal diagnosis of mosaic tetrasomy 12p.
    • The diagnosis was confirmed through enzyme assays.
    • Clinical and biological data from previously reported cases are summarized.

    Findings:

    • Mosaic tetrasomy 12p is a distinct genetic syndrome with specific clinical manifestations.
    • Prenatal diagnosis is achievable and can be confirmed with enzyme analysis.

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  • A comprehensive review of existing cases clarifies the syndrome's characteristics.

    • Implications:

    • Early and accurate diagnosis of mosaic tetrasomy 12p is crucial for appropriate management.
    • Understanding the syndrome's genetic basis aids in genetic counseling.
    • This work provides a foundation for future research into mosaic tetrasomy 12p and related disorders.