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Two children with partial trisomy for 7p.

A C Berry, J Honeycombe, S J Macoun

    Journal of Medical Genetics
    |August 1, 1979
    PubMed
    Summary
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    This study details a family with a balanced translocation between chromosome 7p and 22q. It describes two children with partial trisomy 7p, comparing their features to a prior case.

    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Pediatric Medicine

    Background:

    • Balanced translocations can lead to unbalanced chromosomal segments in offspring.
    • Segregation of chromosomal abnormalities requires careful genetic analysis.
    • Understanding translocation inheritance patterns is crucial for genetic counseling.

    Observation:

    • A second family exhibiting a balanced translocation between chromosome 7p and 22q was identified.
    • Two children within this family presented with partial trisomy for the 7p region.
    • Clinical data from these children were collected and analyzed.

    Findings:

    • The identified translocation involved specific breakpoints on chromosomes 7p and 22q.
    • Partial trisomy 7p resulted in a distinct set of clinical manifestations in the affected children.

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  • Comparison with a previously reported case highlighted similarities and differences in phenotypic expression.

    • Implications:

    • This case expands the understanding of 7p partial trisomy phenotypes.
    • It reinforces the importance of cytogenetic analysis in families with recurrent miscarriages or developmental abnormalities.
    • Further research into the specific genes on 7p involved in this trisomy is warranted.