Ring chromosome 20 syndrome


Ring chromosome 20 syndrome

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 mental retardation.

When only one copy of chromosome 20 forms a ring, the individual suffers from ring 20 chromosomal mosaicism.

References

*cite journal |author=Schinzel A, Niedrist D |title=Chromosome imbalances associated with epilepsy |journal=Am. J. Med. Genet. |volume=106 |issue=2 |pages=119–24 |year=2001 |pmid=11579431 |doi=10.1002/ajmg.1576 |url=

External links

* [http://www.ring20.org/ Ring Chromosome 20 Foundation]


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