Ring Chromosome 20

Classification	D
External resources	Orphanet: 1444;

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 20/Ring 20 FTNW.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.

External links

0.00

(0 votes)

[rarechromo-1] 1.0 ^1.1 "Ring 20". http://www.rarechromo.org/information/Chromosome 20/Ring 20 FTNW.pdf. Retrieved 1 December 2017.

[NIH-2] "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.

[orpha-3] "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.