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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ring chromosome 20


Other Names for this Disease
  • Chromosome 20 ring
  • Ring 20
  • R20
  • Ring chromosome 20 syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and characteristic facial features. Ring chromosome 20 is caused by an abnormal chromosome known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. Ring chromosome 20 is usually not inherited. It almost always occurs by chance during the formation of reproductive cells (eggs or sperm) or in early embryonic development.[1] Treatment for ring chromosome 20 is focused on management of seizures and accommodations for learning.[2]
Last updated: 1/26/2016

References

  1. Ring Chromosome 20 Syndrome. Genetics Home Reference. May 2009; http://ghr.nlm.nih.gov/condition/ring-chromosome-20-syndrome.
  2. Ring 20. Unique. 2014; http://www.rarechromo.org/information/Chromosome%2020/Ring%2020%20FTNW.pdf.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ring chromosome 20. This website is maintained by the National Library of Medicine.
  • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about ring chromosome 20.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ring chromosome 20. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chromosome 20 ring
  • Ring 20
  • R20
  • Ring chromosome 20 syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.