Trisomy 22

Topics: Pregnancy, Chromosome, Genetic disorders Pages: 1 (270 words) Published: March 14, 2013
Trisomy 22 is a chromosomal disorder in which there are 3 copies of chromosome 22 rather than 2. This disorder is found in people with an extra copy or a variation of chromosome 22 in every cell of their body. The chromosomal notation for this disorder would be 47, XY, +22. There are many different disorders associated with trisomy 22 such as Emanuel Syndrome, 22q11 Deletion Syndrome, 22q11 Microduplication Syndrome, Phelan-McDermid Syndrome, Chromosome Ring, Cat Eye Syndrome, Mosaic Trisomy 22, and Complete Trisomy 22. Cases of Complete Trisomy 22 are very rare. Most affected individuals with Complete Trisomy 22 die before or shortly after birth due to severe birth defects. It is also a frequent cause of miscarriage during the 1st trimester of pregnancy, in which the embryo dies inside the pregnant mother. The syndrome causes severe malformations such as abnormal ears, webbed neck, cardiac abnormalities, long fingers, kidney problems, growth retardation, cleft palate, mental delay, flat nasal bridge, excess neck skin, etc. Unfortunately there is not a cure for Complete Trisomy 22 because most individuals affected by it, die shortly after birth. In rare cases, the few newborns that do survive are just forced to live with the malformations of the disease, although their chances of surviving are not very high. Bibliography

"CHROMOSOME 22 CENTRAL - Support for disorders of chromosome 22." CHROMOSOME 22 CENTRAL - Support for disorders of chromosome 22. N.p., n.d. Web. 16 Jan. 2013. http://www.c22c.org/t22.htm

"Trisomy 22 - Wikipedia, the free encyclopedia." Wikipedia, the free encyclopedia. N.p., n.d. Web. 16 Jan. 2013. http://en.wikipedia.org/wiki/Trisomy_22
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