What is a genetic mutation? In biology a genetic mutation is explained as the permanent change of the DNA sequenced or gene. A genetic mutation is what is responsible for a genetic disorder, of which there are many disorder that we could talk about but today we are going to focus on the genetic disorder known as 22q11.2 deletion syndrome.
As it states in the name deletions are mutations in which a section of DNA is lost or deleted. The number of base pairs deleted can range one from on to thousands. This type of deletion syndrome is a disorder that is cause by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location that is designated q11.2. Most people with 22q11.2 deletion syndrome is missing a sequence of about 3 million DNA building blocks on one copy of chromosome 22 in each cell. This region of the cell contains 30 to 40 genes.…show more content… It can affect almost any part of the body and the features vary widely. Common signs and symptoms include but are not limited to Heart abnormalities (often present at birth), cleft palate (an opening in the roof of the mouth) and distinctive facial features. People with 22q11.2 often will experience things like recurrent infections or develop autoimmune disorders such as rheumatoid arthritis or graves’ disease in which the immune system attacks the body’s own tissues and organs. 22q11.2 can also cause breathing problems, kidney abnormalities, low calcium levels in the blood that can lead to seizures, a decrease in blood platelets, significant feeding difficulties, gastrointestinal problems, hearing loss, and skeletal differences that could result in a short stature or abnormalities of the
