Other Names for this Disease
- Chromosome 22 trisomy
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 Common features include an underdeveloped midface (midface hypoplasia) with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR).Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications.
Last updated: 10/9/2014
- Complete Trisomy 22. Chromosome 22 Central. July 28, 2014; http://www.c22c.org/t22.htm. Accessed 10/9/2014.
- Heinrich T, Nanda I, Rehn M, Zollner U, Frieauff E, Wirbelauer J, Grimm T, Schmid M. Live-born trisomy 22: patient report and review. Mol Syndromol. 2013 Jan; 3(6):262-9. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3569106/. Accessed 10/9/2014.
- Genetics Home Reference (GHR) contains information on Trisomy 22. This website is maintained by the National Library of Medicine.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Trisomy 22. Click on the link to view a sample search on this topic.