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Updated: Jun 15, 2026
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Rapid Analysis of Chromosome Aberrations in Mouse B Lymphocytes by PNA-FISH
Published on: August 19, 2014
Ring chromosome instability evaluation in six patients with autosomal rings
C P Sodré1, R S Guilherme, V F A Meloni
1Departamento de Morfologia e Genética da Universidade Federal de São Paulo, São Paulo, SP, Brasil.
Genetics and Molecular Research : GMR
|March 4, 2010
Summary
Ring chromosome instability can lead to secondary genetic aberrations and influence patient phenotypes. These unstable ring chromosomes can persist and multiply within cells in vivo.
Area of Science:
- Cytogenetics
- Genetics
- Molecular Biology
Background:
- Ring chromosomes are linked to abnormal phenotypes due to genomic material loss and mitotic instability.
- Sister chromatid exchange events can exacerbate ring chromosome instability during cell division.
Observation:
- Investigated ring chromosome instability in six patients with ring chromosomes 4, 14, 15, and 18.
- Analyzed lymphocyte cultures at 48 and 72 hours across multiple cell divisions after bromodeoxyuridine incorporation.
- Observed ring chromosome loss and secondary aberrations in various cell generations, despite most cells containing a single monocentric ring.
Findings:
- Secondary aberrations were detected in all patients with ring chromosomes.
- No clear correlation was found between ring size and instability.
- No significant differences in instability were observed between apparently complete rings and those with genetic material loss.
Implications:
- Cells exhibiting ring chromosome instability can survive and proliferate in vivo.
- Ring chromosome instability can contribute to the observed phenotypes in affected patients.
- These findings highlight the complex behavior of ring chromosomes and their impact on genetic health.
