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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Trisomy 22


Other Names for this Disease

  • Chromosome 22 trisomy
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Overview

Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications.[1][2] Common features include an underdeveloped midface (midface hypoplasia) with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).[2] 
Last updated: 10/9/2014

References

  1. Complete Trisomy 22. Chromosome 22 Central. July 28, 2014; http://www.c22c.org/t22.htm. Accessed 10/9/2014.
  2. Heinrich T, Nanda I, Rehn M, Zollner U, Frieauff E, Wirbelauer J, Grimm T, Schmid M. Live-born trisomy 22: patient report and review. Mol Syndromol. 2013 Jan; 3(6):262-9. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569106/. Accessed 10/9/2014.
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Basic Information

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Trisomy 22. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Chromosome 22 trisomy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.