Medicine:Ring chromosome 20
From HandWiki
| Ring chromosome 20 | |
|---|---|
| Other names | Ring 20 |
Ring chromosome 20 syndrome is one of the more common ring chromosome-associated conditions.[1] This occurs when both ends of chromosome 20 are deleted and the ends join together to form a ring. The most obvious feature of this condition is epilepsy.
Epilepsy usually manifests in infancy or early childhood, and usually does not respond well to medication.[2][3]
Some people with ring 20 chromosome have intellectual disability. A minority of those affected have abnormal facial features, low muscle tone, behavioral problems, or short stature.[1]
References
- ↑ 1.0 1.1 "Ring 20". http://www.rarechromo.org/information/Chromosome%2020/Ring%2020%20FTNW.pdf. Retrieved 1 December 2017.
- ↑ "Ring chromosome 20 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". https://rarediseases.info.nih.gov/diseases/1334/index. Retrieved 1 December 2017.
- ↑ "Orphanet: Ring chromosome 20 syndrome". http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1078&Disease_Disease_Search_diseaseGroup=Ring-20&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group+of+diseases=Ring-chromosome-20-syndrome&title=Ring-chromosome-20-syndrome&search=Disease_Search_Simple. Retrieved 1 December 2017.
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