Other Names for this Disease
- Chromosome 22 trisomy
 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.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Trisomy 22. We will answer your question and update these pages with new resources and information.
- Genetics Home Reference (GHR) contains information on the P2RY12 gene and its related conditions. This website is maintained by the National Library of Medicine.
- 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.