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Familial chromosome translocation t(3;18)(p21;p11)

G Buchinger, A Wettstein, H Metze

    Journal of Medical Genetics
    |April 1, 1981
    PubMed
    Summary
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    A rare familial translocation t(3;18)(p21;p11) caused multiple malformations in a newborn due to partial trisomy 3 and partial monosomy 18. This genetic condition runs in the family, affecting multiple generations.

    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Pediatric Medicine

    Background:

    • Familial chromosomal abnormalities can lead to recurrent genetic disorders in offspring.
    • Balanced translocations often remain undetected in carriers until they have affected children.

    Observation:

    • A newborn male presented with multiple congenital malformations.
    • Karyotype analysis revealed partial trisomy 3 and partial monosomy 18.
    • A familial translocation, specifically t(3;18)(p21;p11), was identified.

    Findings:

    • The proband's mother, maternal uncle, and maternal grandmother were identified as balanced translocation carriers.
    • The affected newborn inherited an unbalanced karyotype from these carriers.
    • Another child, a daughter of the maternal uncle, exhibited similar malformations, suggesting the same unbalanced karyotype.

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    Implications:

    • This case highlights the importance of genetic counseling for families with balanced translocations.
    • Understanding familial translocation patterns is crucial for predicting recurrence risk and providing prenatal diagnosis.
    • The study underscores the phenotypic variability associated with partial trisomy 3 and partial monosomy 18.