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Genetic and Rare Diseases Information Center (GARD)

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Ring chromosome 22

Other Names for this Disease
  • Chromosome 22 ring
  • R22
  • Ring 22
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Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality, a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family.[1]
Last updated: 7/11/2011


  1. Ring 22. Unique. 2006; Accessed 7/11/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ring chromosome 22. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • 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 22.

In Depth Information

  • 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 22. Click on the link to view a sample search on this topic.