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Summary
A rare D ring chromosome, identified as chromosome 13, was found to be missing specific bands (p12 and q34). The patient exhibited clinical features consistent with the loss of these genetic segments.
Area of Science:
- Genetics
- Human Chromosome Research
- Clinical Cytogenetics
Background:
- Ring chromosomes are rare chromosomal abnormalities.
- D ring chromosomes involve chromosome 13.
- Loss of specific chromosomal segments can lead to distinct clinical phenotypes.