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08:22

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Acrocephalosyndactyly and partial trisomy 6

K P Robertson, T F Thurmon, M C Tracy

    Birth Defects Original Article Series
    |January 1, 1975
    PubMed

    Insights

    A partial trisomy 6q was identified in an infant with acrocephalosyndactyly. This chromosomal abnormality was linked to the mother's balanced translocation between chromosomes 6 and 10.

    Area of Science:

    • Genetics
    • Human Chromosome Abnormalities
    • Developmental Biology

    Background:

    • Acrocephalosyndactyly is a group of craniosynostosis disorders.
    • Chromosomal aberrations can lead to congenital anomalies.
    • Balanced translocations may result in unbalanced offspring.

    Observation:

    • An infant presented with acrocephalosyndactyly, distinct from Apert syndrome.
    • Genetic analysis revealed a partial trisomy of the long arm of chromosome 6 (trisomy 6q).

    Findings:

    • The infant's trisomy 6q was associated with a maternal balanced translocation between the long arms of chromosomes 6 and 10.
    • This case highlights a specific chromosomal rearrangement leading to a syndromic phenotype.

    Implications:

    • Understanding trisomy 6q is crucial for diagnosing and managing similar genetic disorders.
    • This case contributes to the literature on chromosome 6 abnormalities and their phenotypic consequences.
    • Further research into parental translocations and their impact on offspring development is warranted.

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