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Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature

S Y Hahm, D Chitayat, M A Iqbal

    Clinical Genetics
    |May 1, 1987
    PubMed

    Insights

    Partial duplication 16q in two siblings, resulting from a parental balanced translocation, led to severe health issues and early death. The extent of the 16q duplication correlated with clinical presentation and survival outcomes.

    Area of Science:

    • Genetics
    • Human Genetics
    • Chromosomal Abnormalities

    Background:

    • Describes two siblings with partial duplication 16q, originating from a maternal balanced translocation (6;16).
    • Reviews fifteen previously reported cases of 16q duplication, all linked to parental balanced translocations.

    Observation:

    • Affected infants exhibited dysmorphic facial features (high forehead, prominent nose, antimongoloid slant, malformed ears, micrognathia).
    • Common physical findings included joint flexion contractures, foot deformities, and male genital hypoplasia.
    • Less frequent anomalies involved anorectal, intestinal, and cardiac systems.

    Findings:

    • Most infants with 16q duplication died between 8 days and 6 months of age.
    • Longer survival (up to 6 years) was observed in cases with shorter, more distal duplications of chromosome 16.
    • Postnatal growth failure was common, though intrauterine growth retardation and microcephaly were not always present at birth.

    Implications:

    • The length of the duplicated 16q segment appears to correlate with the clinical phenotype and prognosis.
    • This study highlights the critical role of chromosomal analysis in understanding complex genetic disorders.
    • Further research into 16q duplications can improve genetic counseling and patient management.

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