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Genetic and Rare Diseases Information Center (GARD)

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Ring chromosome 16


Other Names for this Disease

  • Chromosome 16 ring
  • R16
  • Ring 16
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 16 is characterized by postnatal growth deficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.[1][2][3][4] To date, less than 10 cases have been reported in the medical literature.[4]
Last updated: 12/26/2012

References

  1. Conte RA, Kleyman SM, Kharode C, Verma RS. Delineation of a ring chromosome 16 by the FISH-technique: a case report with review. Clin Genet. 1997 Mar;51(3):196-9. .
  2. Neidengard L, Sparkes RS. Ring chromosome 16. Hum Genet. 1981;59(2):175-7. .
  3. Chodirker BN, Ray M, McAlpine PJ, Riordan D, Vust A, Pugh D, Chudley AE. Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16. Am J Med Genet. 1988 Sep;31(1):145-51. .
  4. He W, Tuck-Muller CM, Martínez JE, Li S, Rowley ER, Wertelecki W. Molecular characterization of a ring chromosome 16 from a patient with bilateral cataracts. Am J Med Genet. 2002 Jan 1;107(1):12-7. .
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Basic Information

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 16. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chromosome 16 ring
  • R16
  • Ring 16
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.