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Trisomy 9 mosaicism

R C Lewandowski, J J Yunis

    Clinical Genetics
    |April 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    The first live-born female with trisomy 9 mosaicism, a genetic condition, is presented. This case highlights characteristic facial and skeletal abnormalities, contributing to the understanding of this rare disorder.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Trisomy 9 mosaicism is a rare chromosomal abnormality.
    • Limited cases of live-born individuals with this condition have been documented.
    • Understanding the phenotype is crucial for diagnosis and management.

    Observation:

    • A live-born female with trisomy 9 mosaicism is reported.
    • The patient exhibits a distinctive facial appearance: narrowed temples, enophthalmos, a large nose, and prominent cheeks.
    • Skeletal abnormalities include hip dislocation, joint mobility limitations, and bone hypoplasia.

    Findings:

    • This case aligns with previously reported phenotypes of trisomy 9 mosaicism.
    • The combination of facial dysmorphia and limb malformations is characteristic.

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  • The report adds to the limited clinical data available for this condition.

    • Implications:

    • This case expands the understanding of trisomy 9 mosaicism in live-born females.
    • It underscores the importance of recognizing characteristic phenotypic features for early diagnosis.
    • Further research can elucidate genotype-phenotype correlations and long-term outcomes.