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Related Experiment Videos

Ring chromosome 1 in a newborn.

C Cutenese, M Mullett, M Hummel

    Clinical Dysmorphology
    |May 29, 2000
    PubMed
    Summary

    A rare case of ring chromosome 1 in a newborn girl is detailed. Analysis revealed chromosome instability in fibroblasts, highlighting genetic abnormalities.

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    Area of Science:

    • Genetics
    • Human Genetics
    • Chromosomal Abnormalities

    Background:

    • Ring chromosome 1 (r(1)) is a rare structural chromosomal abnormality.
    • It can arise from breaks at both ends of chromosome 1, followed by fusion.
    • Such abnormalities are often associated with developmental issues and genetic instability.