Thursday, March 6, 2014

22q11.2 deletion syndrom versus 22q11.2 duplication syndrome

   Both 22q11.2 deletion syndrome and 22q11.2 duplication syndrome are genetic mutations that take place on the twenty-second chromosome at the q11.2 gene. The difference is that on deletes the gene shortening the chromosome. While the other duplicates the gene elongating the chromosome. Because the mutations is on one of the twenty-second chromosome both diseases are considered autosomal dominant and is inheritable.
    22q11.2 deletion syndrome is where the chromosome has part of it deleted or removed. This can cause heart abnormalities, opening in the roof of the mouth, and distinctive facial features. They have recurrent infections caused by weakened immune system, and can develop autoimmune diseases such as rheumatoid  arthritis and greaves disease in which the immune system attacks  cells. It can also cause kidney abnormalities, breathing problems, low levels of calcium (which can cause seizures), decrease in blood platelets, hearing loss, gastrointestinal problems, feeding difficulties, and skeletal problems with the spine. It is also cited to cause ADHD, schizophrenia, anxiety, depression, bipolar disorder, and autism. It affects one in four thousand people; but doctors think because of it variability it is under diagnosed.
     22q11.2 duplication syndrome is where the chromosome has part of it duplicated. Affected individuals may have developmental delay, intellectual disability, and slow growth leading to short stature. Studies say that about one in seven hundred people have this disorder.

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http://ghr.nlm.nih.gov/condition/22q112-duplication

http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome

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