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Genetic and Rare Diseases Information Center (GARD)

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Mosaic trisomy 8

Other Names for this Disease
  • Mosaic trisomy chromosome 8
  • Trisomy 8 mosaicism
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Mosaic trisomy 8 is a chromosome disorder defined by the presence of three copies of chromosome 8 in some cells of the body. It is characterized by distinctive facial features; mild intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. In the absence of serious problems, life expectancy is normal. Complete trisomy 8 is lethal and often results in miscarriage during the first trimester. Mosaic trisomy 8 is the result of a random error in the egg or sperm. Diagnosis is based on karyotype analysis. Mosaic trisomy 8 almost always occurs in individuals with no family history of the condition.[1] 
Last updated: 7/25/2011


  1. Verloes A. Mosaic trisomy 8. Orphanet. April 2009; Accessed 7/25/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Mosaic trisomy 8. This website is maintained by the National Library of Medicine.
  • 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 mosaic trisomy 8.

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 8. Click on the link to view a sample search on this topic.