Other Names: Ring-Shaped Chromosome 20 or r(20) Syndrome
Ring Chromosome 20 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 mental retardation. When not all cells contain a ring chromosome 20, the individual suffers from 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.Recurrent seizures are the most recognizable feature of this syndrome and are most often the first sign of this syndrome. These syndromes are often ongoing and poorly responsive to anti-seizure medications. Most patients develop seizures the first few years of life, but the age of onset ranges from ages 1 to 17. Different types of seizure have been reported in this syndrome. The most common seizure type appears to be brief focal onset epileptic seizures with impairment of consciousness and awareness, known as complex partial seizures. Other features you may see in these complex partial seizures include staring, oral automatisms, unspecified automatic behavior, involuntary motor movements and/or head turning.

 

Contact the Genetic and Rare Diseases (GARD) Information Center for more information on Ring Chromosome 20 Syndrome.