Ring chromosome 20 syndrome
Medical condition / From Wikipedia, the free encyclopedia
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Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome. The syndrome is associated with epileptic seizures, behaviour disorders and intellectual disability.[1]
This article needs more reliable medical references for verification or relies too heavily on primary sources. (April 2020) |
When not all cells contain a ring chromosome 20, the individual has ring 20 chromosomal mosaicism. Ring Chromosome 20 syndrome is thought to be an underdiagnosed condition. Since chromosomal analysis or karyotype testing is not a routine investigation for patients with epilepsy, the diagnosis of ring chromosome 20 syndrome is typically delayed or unrecognized.[citation needed]