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Ring chromosome 20 syndrome

Official Community

Ring chromosome 20 epilepsy syndrome, also known as r(20) syndrome, is a rare chromosomal anomaly resulting from a break on each arm of chromosome 20 resulting in ring formation. In r(20) syndrome, the breakpoint of most patients is in the p13q13.33 region of chromosome 20. Two distinct forms are recognized, mosaic and non-mosaic ring chromosome 20 epilepsy syndrome.