Mosaic trisomy 8
Other Names for this Disease
- Mosaic trisomy chromosome 8
- Trisomy 8 mosaicism
chromosomal abnormality that can affect many parts of the body. In individuals with mosaic trisomy 8, some of the body's cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary, but may include distinctive facial features; 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, while complete trisomy 8 is lethal and often results in miscarriage during the first trimester. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm). Diagnosis is based on analysis of chromosomes via genetic testing, such as karyotype. Treatment varies depending on associated symptoms, but typically requires a multidisciplinary team approach.Mosaic trisomy 8 is a
Last updated: 5/24/2016
- Verloes A. Mosaic trisomy 8. Orphanet. April 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96061. Accessed 5/24/2016.
- Trisomy 8 Mosaicism. Unique. 2012; http://www.rarechromo.org/information/Chromosome%20%208/Trisomy%208%20Mosaicism%20FTNW.pdf. Accessed 5/24/2016.
- 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.