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