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Related Experiment Videos

Distal 19q duplication

J Zonana, M G Brown, R E Magenis

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

    Two brothers with a distal 19q duplication experienced growth retardation, microcephaly, and seizures. This genetic condition, linked to a maternal translocation, suggests a common distal 19q phenotype.

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    Area of Science:

    • Genetics
    • Clinical Medicine
    • Human Disease

    Background:

    • Balanced reciprocal translocations can lead to unbalanced chromosomal rearrangements in offspring.
    • Distal 19q duplications are rare genetic events with incompletely understood phenotypic consequences.

    Observation:

    • Two brothers presented with intrauterine and postnatal growth retardation, microcephaly, and intellectual disability with seizures.
    • Distinct facial dysmorphisms were noted, including coarse hair, high frontal hairline, short philtrum and nose, flat nasal root, and a broad mouth with downturned commissures.

    Findings:

    • Karyotyping confirmed a distal 19q duplication in both affected brothers, inherited from a maternal balanced reciprocal translocation.
    • Comparison with previously reported cases suggests a recognizable phenotype associated with distal 19q duplications.

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    Implications:

    • The findings contribute to delineating the clinical spectrum of distal 19q duplication syndrome.
    • Further research into this specific chromosomal abnormality can aid in genetic counseling and diagnosis.