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Diseases

Genetic and Rare Diseases Information Center (GARD)

Ring chromosome 15


Other Names for this Disease
  • Chromosome 15 ring
  • Ring 15
  • R15
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 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development.[1][2] In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation.[1] Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists.[1][2] 
Last updated: 5/4/2016

References

  1. Kulkarni S. Chromosome 15 Ring. National Organization for Rare Disorders (NORD). 2009; http://rarediseases.org/rare-diseases/chromosome-15-ring/.
  2. Morava E. Ring 15. Unique. 2005; http://www.rarechromo.org/information/Chromosome%2015/Ring%2015%20FTNW.pdf.
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Basic Information

  • 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 15.

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 15. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chromosome 15 ring
  • Ring 15
  • R15
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.