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Partial trisomy 20p derived from a t(18;20) translocation.

K M Taylor, H L Wolfinger, M G Brown

    Human Genetics
    |October 28, 1976
    PubMed
    Summary
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    Two siblings with congenital anomalies were found to have partial trisomy 20p due to a translocation. This genetic condition, partial trisomy 20p, impacts reproductive outcomes in their family.

    Area of Science:

    • Genetics
    • Human Genetics
    • Medical Genetics

    Background:

    • Partial trisomy 20p is a rare chromosomal abnormality.
    • Translocations involving chromosome 20 can lead to various phenotypic outcomes.

    Observation:

    • Two siblings presented with a concordant syndrome of congenital anomalies.
    • G-banding analysis revealed partial trisomy 20p in both affected siblings, resulting from a balanced t(18;20) translocation.
    • Family members, including a normal sibling, mother, and half-aunt, were identified as balanced carriers of the t(18;20) translocation.

    Findings:

    • The affected siblings exhibited features consistent with, yet distinct from, previously reported cases of partial trisomy 20p.
    • The family demonstrated an extremely poor reproductive history, strongly correlated with the segregation of the balanced t(18;20) translocation.

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  • The observed segregation pattern closely mirrored that of a t(13;20) translocation in another family, suggesting predictable meiotic behavior.

    • Implications:

    • The study highlights the complex relationship between chromosomal translocations, phenotypic expression, and reproductive fitness.
    • Understanding pachytene configurations aids in predicting translocation segregation patterns.
    • Further research is needed to explain the phenotypic dissimilarities observed between families with similar translocation segregation patterns.