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Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation
S R Ghaffari1, E Boyd, J M Connor
1Institute of Medical Genetics, Yorkhill Hospitals Campus, Glasgow, UK.
Journal of Medical Genetics
|October 23, 1998
Summary
Comparative Genomic Hybridisation (CGH) identified an unknown supernumerary ring chromosome when standard methods failed. This technique is feasible for diagnosing marker chromosomes, even with limited cellular presence.
Area of Science:
- Genetics
- Genomics
- Cytogenetics
Background:
- Accurate identification of chromosomal abnormalities is crucial for genetic diagnosis.
- Conventional cytogenetic banding and fluorescence in situ hybridisation (FISH) are standard diagnostic tools.
- Unidentified supernumerary marker chromosomes pose diagnostic challenges.
Observation:
- Comparative Genomic Hybridisation (CGH) was employed to investigate an uncharacterized supernumerary ring chromosome.
- Standard cytogenetic methods, including banding and FISH, were insufficient for identification.
- Targeted FISH using chromosome 19 probes confirmed CGH findings.
Findings:
- CGH successfully defined the origin of the supernumerary ring chromosome.
- The technique proved effective even when the abnormality was present in less than 50% of cells.
- CGH provided definitive identification where other methods failed.
Implications:
- CGH is a feasible and powerful tool for identifying supernumerary marker chromosomes.
- This method can resolve complex cases lacking clear clinical or cytogenetic indicators.
- CGH enhances diagnostic capabilities in constitutional cytogenetics.