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Trisomy 4p and deletion 4p- in a family having translocation, t(4p-; 12p+)

J G Mortimer, W Chewings, P Miethke

    Human Heredity
    |January 1, 1978
    PubMed

    Insights

    The 4p-syndrome in a newborn was linked to a deletion on chromosome 4. This genetic condition, 4p-syndrome, results from specific chromosomal abnormalities, impacting development.

    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Clinical Genetics

    Background:

    • The 4p-syndrome, also known as Wolf-Hirschhorn syndrome, is a rare genetic disorder characterized by intellectual disability, developmental delay, and distinctive facial features.
    • Chromosomal abnormalities involving the short arm of chromosome 4 are the underlying cause of this syndrome.

    Observation:

    • A newborn infant presenting with clinical features of 4p-syndrome was found to have a 46,XY,4p- karyotype, indicating a deletion of bands distal to 4p14.
    • Family studies revealed a balanced translocation, rcp(4;12)(p14;p13), in the father, paternal grandfather, and an uncle.
    • A severely affected aunt exhibited partial trisomy for the short arms of chromosome 4, with an unbalanced karyotype of 45,XX,12p+.

    Findings:

    • Monosomy for bands 4p15 and 4p16 appears to cause the full spectrum of 4p-syndrome clinical features.
    • Trisomy for the same chromosomal region results in disabilities consistent with the more variable 4p trisomy syndrome.
    • The study also reviews reported pregnancies involving translocation carriers.

    Implications:

    • Understanding these chromosomal imbalances is crucial for accurate genetic diagnosis and counseling in families with 4p-syndrome and related conditions.
    • This research highlights the critical role of specific chromosomal regions in determining distinct clinical phenotypes.
    • The findings contribute to the broader understanding of chromosome 4 abnormalities and their impact on human development.

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