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Related Experiment Videos

Partial trisomy 22: a recognizable syndrome

P Garlinger, S A McGeary, E Magenis

    Clinical Genetics
    |July 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    Partial trisomy 22 mosaic, often linked to parental translocation t(4;22), presents a distinct syndrome. This includes developmental delays, heart defects, and characteristic facial features, as seen in this case and similar reported instances.

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    Area of Science:

    • Human Genetics
    • Clinical Dysmorphology
    • Pediatric Medicine

    Background:

    • Partial trisomy 22 mosaicism is a rare chromosomal abnormality.
    • Parental translocations can lead to unbalanced segregation and partial trisomies in offspring.
    • Understanding the phenotypic spectrum of partial trisomy 22 is crucial for diagnosis and management.