Neurofibromatosis Neurofibromatosis is a genetic disorder that causes tumors to develop on nervous tissue located in the brain, spinal cord, and nerves. “Genetics disorders are diseases that are received through an individual having an abnormality in DNA”(Genetic Science Learning Center, 2014). These irregularities range from single-base mutations on just one chromosome all the way up to receiving or removing an entire chromosome. In the case of neurofibromatosis, it is caused by an anomaly in a single chromosome. Neurofibromatosis, also known as NF, has two distinct types called NF1 and NF2. “NF1 occurs in approximately 1 in 4,000 births, whereas NF2 occurs about 1 in 40,000 births”(Green, n.d.). NF1 and NF2 affects both race and gender equally.
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NF can also be received by mutation in a sperm or egg cell, but it is not likely to happen. NF1 develops from a difference on chromosome 17, whereas NF2 develops from a difference on chromosome 22. NF is an autosomal dominant disorder because the affected area is located on one chromosome pair and not on the sex-linked chromosome. If one of the parents of a child has NF, there are four gene combinations. Two of the combinations would result in the child receiving NF, and the other two would result in a child without NF. “Children have a fifty percent chance of inheriting the genes that cause NF if one parent has NF, and the type received will be the same as the parent with the disease”(Patel and Ratner, n.d.). NF1 and NF2 cause tumors, both cancerous and noncancerous. Tumors for both are typically are benign and rarely result in becoming malignant. NF1’s common symptoms include brown spots on the skin, pea-sized bumps just under the skin in nerve tissue, manifestation of freckles under armpit or near groin, tiny pigments in the iris of the eyes, tumors near the optic nerve of the eye, and in extreme cases, curvature of the spine. NF2’s common symptoms include tumors on the cranium, brain tumors, constant ringing noises, blurry vision, balance problems, and the degeneration of
NF can also be received by mutation in a sperm or egg cell, but it is not likely to happen. NF1 develops from a difference on chromosome 17, whereas NF2 develops from a difference on chromosome 22. NF is an autosomal dominant disorder because the affected area is located on one chromosome pair and not on the sex-linked chromosome. If one of the parents of a child has NF, there are four gene combinations. Two of the combinations would result in the child receiving NF, and the other two would result in a child without NF. “Children have a fifty percent chance of inheriting the genes that cause NF if one parent has NF, and the type received will be the same as the parent with the disease”(Patel and Ratner, n.d.). NF1 and NF2 cause tumors, both cancerous and noncancerous. Tumors for both are typically are benign and rarely result in becoming malignant. NF1’s common symptoms include brown spots on the skin, pea-sized bumps just under the skin in nerve tissue, manifestation of freckles under armpit or near groin, tiny pigments in the iris of the eyes, tumors near the optic nerve of the eye, and in extreme cases, curvature of the spine. NF2’s common symptoms include tumors on the cranium, brain tumors, constant ringing noises, blurry vision, balance problems, and the degeneration of