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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.
- Verloes A. Mosaic trisomy 8. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96061. Accessed July 25, 2011.
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- Genetics Home Reference (GHR) contains information on Mosaic trisomy 8. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- 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.