Complex Small Supernumerary Marker Chromosomes
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Complex rearranged small supernumerary marker chromosomes (sSMC) consisting of parts from two or more different chromosomes can be formed. The most frequently observed complex sSMC are those present in Emanuel syndrome. Most often, complex sSMC have centric minute shape, followed by inverted duplication shape and ring shape. Chromosome 15 is most often involved. In most cases two chromosomes are involved, but there are also rare cases of complex rearranged sSMC in which only one chromosome or even three chromosomes are involved.
KeywordsSmall Supernumerary Marker Chromosomes Emanuel Syndrome (ES) Ring Shape Reverse FISH Cytogenetic Analysis
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- Liehr T (2011b) Homepage on Cases with uniparental disomy (UPD). http://www.med.uni-jena.de/fish/sSMC/00START-UPD.htm. Cited 10 Jan 2011