Role

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As a family nurse practitioner I am excepting to work in a genetics clinic with a specific population. The population I will be working with is patients with Neurofibromatosis. Neurofibromatosis is a genetic disorder which causes tumors to grow along various nerves in the body. There are two types of Neurofibromatosis; there is type I and type II. This condition can be complex and debilitating.
Neurofibromatosis
Neurofibromatosis type I (NFI) is also known as peripheral neurofibromatosis. It was first described in medical literature in 1882 (Viskochil, 2001). It is an autosomal dominant condition with variability of how it manifests itself. NFI is located on chromosome 17q11.2. The new mutation rate is 1:10,000, one of the highest known mutation rates of a gene in humans. Occurrence for NFI is 1:3,000 births and it affects all races, ethnicities and genders (Children’s Tumor Foundation, n.d.). A person with NFI can be diagnosed clinically or by blood work. To be diagnosed clinically an individual must have two or more of the following signs: six or more café au lait macul...

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