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Medical condition
Ring chromosome 20 syndrome
Normal chromosome 20 and ring chromosome 20 in an heterozygote patient
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]
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]
^Reference, Genetics Home. "ring chromosome 20 syndrome". Genetics Home Reference. Retrieved 2017-03-18.
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