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Related Experiment Videos

Partial tetrasomy 9 in a liveborn infant

L Wisniewski, G D Politis, J V Higgins

    Clinical Genetics
    |September 1, 1978
    PubMed
    Summary
    This summary is machine-generated.

    A rare chromosome 9 rearrangement in an infant caused partial tetrasomy, leading to congenital malformations resembling trisomy 13. This genetic anomaly, a tandem duplication of chromosome 9, highlights complex chromosomal disorders.

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    Area of Science:

    • Genetics
    • Human Biology
    • Developmental Biology

    Background:

    • Congenital malformations can arise from various genetic anomalies, including chromosomal structural rearrangements.
    • Understanding these rearrangements is crucial for diagnosing and managing affected individuals.

    Observation:

    • An infant presented with multiple congenital malformations and an unusual chromosomal rearrangement.
    • Karyotyping revealed a tandem duplication of chromosome 9, resulting in partial tetrasomy 9 (47,XY, +tdic(9;9)(q22;q22)).
    • Clinical and autopsy findings shared similarities with trisomy 13.

    Findings:

    • The tandem duplicated chromosome 9 (tdic(9;9)) was largely monocentric but showed some secondary centromeric activity.
    • Both parents had normal karyotypes, suggesting a de novo event or complex inheritance.

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  • C-banding indicated a potential maternal origin for at least one of the chromosome 9 short arms on the tdic.

    • Implications:

    • This case expands the understanding of chromosome 9 structural variations and their phenotypic consequences.
    • The findings underscore the importance of detailed cytogenetic analysis in cases of unexplained congenital anomalies.
    • Further research into the functional impact of tdic chromosomes is warranted for improved genetic counseling.