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When was neurofibromatosis discovered?
Neurofibromatosis type 1 (NF1) was first described in 1882 by the German pathologist Von Recklinghausen. Neurofibromatosis type 2 (NF2) was first described in 1820 by the Scottish surgeon JH Wishart.
Can a prenatal test detect neurofibromatosis?
Clinical genetic testing can confirm the presence of a mutation in the neurofibromatosis type 1 (NF1) gene. Prenatal testing for NF1 mutations is also possible using amniocentesis or chorionic villus sampling procedures. Genetic testing for neurofibromatosis type 2 (NF2) mutations is sometimes available but is accurate only in about 65 percent of those individuals tested.
What is neurofibromatosis?
There are no available treatments for the disorders which underlie either type of neurofibromatosis. To some extent, the symptoms of NF-1 and NF-2 can be treated individually. Skin tumors can be surgically removed. Some brain tumors.
Is Neurofibromatosis a dominant gene?
Both types of neurofibromatosis are an autosomal dominant genetic disorder which means an affected person has a 1 in 2 chance of passing it on in each pregnancy. Neurofibromatosis also can be the result of a mutation in the genetic material of the sperm or egg at conception even if families have no previous history of NF. About half of cases are inherited, and the other half are due to spontaneous genetic mutation
How do bilateral acoustic neuromas usually occur?
occur as part of a hereditary condition called Neurofibromatosis Type 2 (NF2). A person with NF2 has inherited a predisposition for developing acoustic neuromas and other tumors of the nerve cells
What is Neurofibromatosis type 2?
hereditary condition associated with an increased risk of bilateral acoustic neuromas, other nerve cell tumors and cataracts.
Does neurofibromatosis affect certain populations more than others?
Neurofibromatosis occurs in about one of every 4,000 births. Two types of NF exist, NF-1 (90% of all cases), and NF-2 (10% of all cases).
What is the difference between neurofibromatosis 1 and neurofibromatosis 2?
Neurofibromatosis 1 hyperpigmented macules (cafe au lait spots) nerve tumors types: cutaneous, subcutaneous and plexiform neurofibromas Optical tumors optic pathway gliomas and Lisch nodules (bumps on iris of the eye) Bony abnomralities dysplasias (malformations) of the eye socket, vertebrae Thinning of the long bone cortex Scoliosis can occur as well learning deficits yet large head size Increased rick of non nervous system cancers Neurofibromatosis 2 generally just schwannomas, meningomas and the occasional cataracts. Also they are both affected by different chromosomes... patients with NF1 has a mutation on the long arm of chromosome 17 while neurofibromatosis 2 has a mutation on chromosome 22.
What can a person on a diabetes diet eat?
it really depends on if you have type 1 or type 2
What is the likelyhood of neurofibromatosis?
Neurofibromatosis or NF affects 1 out of every 3000 births. It affects more than 100,000 Americans. NF is the most common genetic disorder.....More common than Multiple sclerosis, Tay Sac Disease and hereditary Muscular Dystrophy. For those affected by NF....Their offspring have a 50% Chance of also being affected. In the statistics....about HALF of those cases are from a Spontaneous Mutation...meaning there is no history of NF in the family.
Is narcolepsy's mutation dominant or recessive?
Neurofibromatosis (NF) is a dominant trait. So only one copy of the mutated gene is needed to have the disorder...for example, if someone with NF marries another person without NF, then the chance that their child would have it is 50%.
How do you type one half?
1/2 (type a 1, then a /, then a 2)
