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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
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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


  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.