Ring chromosome 20

Ring chromosome 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. 1 2 "Ring 20" (PDF). Rarechromo.org. Retrieved 1 December 2017.
  2. ↑ "Ring chromosome 20 - Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". Rarediseases.info.nih.gov. Retrieved 1 December 2017.
  3. ↑ "Orphanet: Ring chromosome 20 syndrome". Orpha.net. Retrieved 1 December 2017.
Classification
External resources


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