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Genetic and Rare Diseases Information Center (GARD)

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Mosaic trisomy 22

Other Names for this Disease
  • Mosaic trisomy chromosome 22
  • Trisomy 22 mosaicism
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Mosaic trisomy 22 is a chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder may vary, depending on the number of cells in which the extra chromosome 22 is present.[1][2] Some of the features that have been associated with this condition include growth delays, cognitive deficiencies, unequal development of the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities.[2]
Last updated: 10/4/2011


  1. Mosaic Trisomy 22. Chromosome 22 Central. Accessed 11/8/2010.
  2. Chromosome 22, Trisomy Mosaic. National Organization for Rare Disorders (NORD). 2003; Accessed 11/8/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Mosaic trisomy 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.

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