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Partial trisomy 12q24.31----qter.

E H Tajara, M Varella-Garcia, A C Gusson

    Journal of Medical Genetics
    |February 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    This study details a male child with partial trisomy of the distal 12q chromosome region, identifying associated developmental and physical abnormalities. The findings contribute to understanding this rare genetic condition and its clinical manifestations.

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    Area of Science:

    • Genetics
    • Clinical Genetics
    • Human Genetics

    Background:

    • Partial trisomy of chromosome 12q, specifically the distal region, is a rare chromosomal abnormality.
    • Maternal balanced translocations, particularly involving the 4;12 translocation, are a common cause.
    • Understanding the phenotypic spectrum is crucial for genetic counseling and diagnosis.

    Observation:

    • A male infant with karyotype 46,XY,-4,+der(4),t(4;12)(p16;q24.31)mat presented with a distinct set of clinical features.
    • Key features included mental and psychomotor retardation, dysmorphic facial features (hypertelorism, flat nasal bridge, low-set ears, downturned mouth, micrognathia), and other anomalies.
    • Additional findings encompassed loose nuchal skin, widely spaced nipples, simian creases, clinodactyly, genitourinary abnormalities, sacrococcygeal alterations, and lower limb deformities.

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    Findings:

    • The reported case aligns with previously documented cases of distal 12q partial trisomy.
    • The breakpoint in the majority of cases, including this one, is located in the 12q24 region.
    • Adjacent 1 segregation of a maternal balanced translocation was identified as the mechanism.

    Implications:

    • This case expands the clinical description of partial trisomy 12q distal.
    • Accurate karyotyping and genetic analysis are vital for diagnosing and managing affected individuals.
    • Further research can elucidate genotype-phenotype correlations for better prediction of outcomes.