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Related Experiment Videos

Phenotypic variation in two patients with a ring chromosome 22.

S J Funderburk, R S Sparkes, I Klisak

    Clinical Genetics
    |November 1, 1979
    PubMed
    Summary

    Ring chromosome 22 in two patients caused varying intellectual disability and distinct physical anomalies. This genetic condition typically presents with moderate to severe intellectual disability and a spectrum of dysmorphic features.

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    Area of Science:

    • Genetics
    • Clinical Medicine
    • Developmental Biology

    Background:

    • Ring chromosome 22 (r(22)) is a rare chromosomal abnormality.
    • Previous studies suggest an association between r(22) and intellectual disability.
    • Phenotypic variability in individuals with r(22) requires further investigation.

    Observation:

    • Two patients with r(22) presented with significantly different physical characteristics.
    • One patient had minimal dysmorphic features, while the other displayed a distinct pattern of anomalies.

    Findings:

    • Ring chromosome 22 is consistently associated with moderate to severe intellectual disability.
    • Observed dysmorphic features range from mild and nonspecific to more pronounced and characteristic patterns.

    Implications:

    • The findings emphasize the variable expressivity of ring chromosome 22.
    • Further research is needed to elucidate genotype-phenotype correlations in r(22) syndrome.

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