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Partial trisomy-5p.

E Yunis, R Silva, H Egel

    Human Genetics
    |August 31, 1978
    PubMed
    Summary
    This summary is machine-generated.

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    This study reports two siblings with partial trisomy 5p, a condition caused by a balanced translocation. Common abnormalities include developmental delays and distinct facial features in affected males.

    Area of Science:

    • Genetics
    • Human Genetics
    • Clinical Genetics

    Background:

    • Partial trisomy 5p is a rare chromosomal abnormality.
    • Understanding the phenotypic spectrum is crucial for genetic counseling and diagnosis.

    Observation:

    • Two siblings with partial trisomy 5p were identified.
    • The father carried a balanced translocation, t(4q+;5p-), indicating a potential source of the chromosomal imbalance.

    Findings:

    • This brings the total reported cases of partial trisomy 5p to twelve.
    • Consistent abnormalities observed across cases include mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia, ear abnormalities, increased ulnar loops, and cryptorchidism in males.

    Implications:

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    • These findings contribute to the clinical understanding of partial trisomy 5p.
    • Accurate diagnosis and recognition of phenotypic patterns aid in prognosis and management of affected individuals.