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Inheritance of brachydactyly type D.

E Gray, V K Hurt

    The Journal of Heredity
    |July 1, 1984
    PubMed
    Summary

    Brachydactyly type D (BD-D) is inherited via an autosomal dominant gene with incomplete penetrance. This thumb anomaly shows complete inheritance in females but is less common in males, affecting both or just one thumb.

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    Area of Science:

    • Genetics
    • Human Anatomy

    Background:

    • Investigating the inheritance patterns of genetic disorders is crucial for understanding disease transmission.
    • Brachydactyly type D (BD-D), a congenital condition affecting thumb development, requires detailed genetic analysis.

    Observation:

    • Studied inheritance of brachydactyly type D (BD-D) in two new and 36 prior Caucasian family pedigrees.
    • Observed that BD-D presents as a bilateral condition in about 75% of individuals and unilateral in about 25%.

    Findings:

    • BD-D follows a single autosomal dominant inheritance pattern with incomplete penetrance.
    • Penetrance is sex-influenced: complete in females and approximately 62% in males.
    • Expression is bilateral in ~75% and unilateral in ~25% of affected individuals, regardless of sex.

    Implications:

    • Understanding the genetic basis and variable penetrance of BD-D aids in genetic counseling.
    • This research contributes to the broader knowledge of autosomal dominant conditions and their expression.
    • Further research into the specific genetic factors influencing penetrance and expression in BD-D is warranted.

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