Mosaic trisomy 22
Other Names for this Disease
- Mosaic trisomy chromosome 22
- Trisomy 22 mosaicism
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cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described.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 can vary widely. 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 (
Last updated: 10/4/2011
- Chromosome 22, Trisomy Mosaic. National Organization for Rare Disorders (NORD). 2003; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Chromosome%2022%2C%20Trisomy%20Mosaic. Accessed 11/8/2010.
- Mosaic Trisomy 22. Chromosome 22 Central. http://www.c22c.org/mt22.htm. Accessed 11/8/2010.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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 22. Click on the link to view a sample search on this topic.