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Diseases

Genetic and Rare Diseases Information Center (GARD)

Trisomy 2 mosaicism


Other Names for this Disease
  • Mosaic trisomy 2
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Overview

Trisomy 2 mosaicism is a rare chromosome disorder characterized by having an extra copy of chromosome 2 (three copies in total) in a proportion of a person’s cells. Many cases of trisomy 2 mosaicism result in miscarriage during pregnancy. In infants born with trisomy 2 mosaicism, signs and symptoms vary widely and may include any of various birth defects.[1] The severity and specific symptoms present depend on the level of mosaicism (the proportion of cells affected) and the location or type of affected cells in the body. Trisomy 2 mosaicism is not inherited. It is caused by a random error in cell division during early development of the embryo.

When trisomy 2 mosaicism is detected during early pregnancy with chorionic villus sampling (CVS), the affected cells may be confined only to the placenta, and not present in the fetus. Amniocentesis is typically recommended to confirm this, and monitoring is still warranted due to an increased risk for intrauterine growth restriction, low amniotic fluid level (oligohydramnios), or other complications including stillbirth.[2][3]
Last updated: 6/1/2016

References

  1. Gupta S et al. Trisomy 2 mosaicism in hypomelanosis of Ito. Am J Med Genet Part A. 2007;
  2. McKinlay Gardner RJ, Southerland GR. Chromosome Abnormalities and Genetic Counseling. New York, NY: Oxford University Press, Inc; 2004;
  3. Chen CP, et. al. Prenatal diagnosis of mosaic trisomy 2 associated with abnormal maternal serum screening, oligohydramnios, intrauterine growth restriction, ventricular septal defect, preaxial polydactyly, and facial dysmorphism. Taiwan J Obstet Gynecol. September, 2013; 52(3):395-400.
  4. Sifakis S, Staboulidou I, Maiz N, Velissariou V, Nicolaides KH. Outcome of pregnancies with trisomy 2 cells in chorionic villi.. Prenat Diagn. 2010 Apr;
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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 Trisomy 2 mosaicism. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Mosaic trisomy 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.