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Partial trisomy 12q

B Zabel, W Baumann

    Journal of Medical Genetics
    |April 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    A rare genetic condition, partial trisomy 12q, was identified in a newborn due to a maternal translocation. This finding adds to the limited cases of chromosome 12 aberrations, highlighting familial inheritance patterns.

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    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Medical Genetics

    Background:

    • Balanced translocations can lead to unbalanced chromosomal abnormalities in offspring.
    • Aberrations involving chromosome 12 are infrequently reported in genetic literature.
    • Familial translocations are a known cause of recurrent genetic disorders.

    Observation:

    • A male newborn presented with multiple congenital abnormalities.
    • Genetic analysis revealed a partial trisomy 12q243 to qter.
    • The abnormality resulted from a maternal balanced translocation, 46,XX,t(9;12)(p243;q243).

    Findings:

    • The patient's condition is consistent with trisomy for the distal region of chromosome 12q.
    • This represents the third reported case of partial trisomy 12q, all linked to familial translocations.

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  • The maternal grandmother was identified as a carrier of the same 9;12 translocation.

    • Implications:

    • This case expands the understanding of partial trisomy 12q phenotypes.
    • It underscores the importance of genetic counseling for carriers of balanced translocations.
    • Further research into chromosome 12 aberrations may reveal more about their impact on development.