Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation.
case_report · Level V
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- Record sourced from PubMed, PMID 9783708.
- Also identified by PMC identifier 1051460.
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Abstract
We report the use of comparative genomic hybridisation (CGH) to define the origin of a supernumerary ring chromosome which conventional cytogenetic banding and fluorescence in situ hybridisation (FISH) methods had failed to identify. Targeted FISH using whole chromosome 19 library arm and site specific probes then confirmed the CGH results. This study shows the feasibility of using CGH for the identification of supernumerary marker chromosomes, even in fewer than 50% of cells, where no clinical or cytogenetic clues are present.
Medical subject headings
- Chromosomes, Human, Pair 19
- Intellectual Disability
- Mosaicism
- Nucleic Acid Hybridization
- Ring Chromosomes