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Tertiary trisomy (22q11q),47,+der(22),t(11;22)

B M Biederman, C C Lin, R B Lowry

    Human Genetics
    |February 1, 1980
    PubMed
    Summary

    A child with a rare genetic condition, tertiary trisomy 22q11q, experienced developmental delays, cleft palate, and heart defects. This resulted from maternal meiotic nondisjunction involving an 11;22 translocation.

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    Area of Science:

    • Genetics
    • Human Genetics
    • Medical Genetics

    Background:

    • Maternal 11;22 translocation is a known risk factor for chromosomal abnormalities in offspring.
    • Meiotic nondisjunction can lead to unbalanced chromosomal segregations during gamete formation.

    Observation:

    • A case of tertiary trisomy 22q11q (47,XX,+der(22),(22pter = to 22q13 :: 11q25 = to 11qter)) is presented in a child.
    • The child exhibited significant clinical features including mental retardation, cleft palate, and congenital heart disease.

    Findings:

    • The tertiary trisomy 22q11q resulted from 3:1 meiotic nondisjunction in a maternal (11;22) translocation carrier.
    • Clinical findings were compared with previously reported cases of partial trisomy 11q and trisomy 22 syndromes.
    • Half of the ten reported families with this translocation had additional balanced carriers, indicating a potential increased risk for MCA/MR syndromes.

    Implications:

    • This case highlights the complex genetic mechanisms leading to MCA/MR syndromes.
    • Understanding translocation segregation patterns is crucial for genetic counseling in carrier families.
    • Further studies are needed to confirm the increased risk of liveborn children with MCA/MR syndromes in families with balanced translocation carriers.

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