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What is neurofibromatosis?
Neurofibromatosis is a genetic disorder that causes tumors to grow on nerves in various parts of the body. There are three types of neurofibromatosis: NF1, NF2, and schwannomatosis. Symptoms can vary widely and may include skin changes, hearing loss, and balance problems, depending on the type of neurofibromatosis. Treatment options focus on managing symptoms and monitoring for any potential complications.
Who discovered neurofibromatosis?
Neurofibromatosis was first formally described by the German pathologist Friedrich Daniel von Recklinghausen in the late 1800s. He published a detailed case study of the condition, which led to it being named after him as von Recklinghausen's disease.
What is it called when a segment of a chromosome is repeated?
The mutation in which a segment of a chromosome is repeated is known as duplication.
What are the name of 23 chromosomes in human body?
No, there are 46 chromosomes in one cell. A gamete, or sex cell, has 23 chromosomes because during fertilization, the female and male gametes (egg and sperm, respectively) come together to form a new cell with 46 chromosomes
4 chromosome mutations?
Deletion: Part of a chromosome is missing. Duplication: A segment of a chromosome is copied multiple times. Inversion: A segment of a chromosome is reversed in orientation. Translocation: Part of a chromosome breaks off and attaches to another chromosome.
What is the genotype for a person with the genetic disorder Neurofibromatosis?
The genotype for Neurofibromatosis is typically inherited in an autosomal dominant pattern, caused by mutations in the NF1 gene located on chromosome 17. Individuals with Neurofibromatosis usually have a mutation in one copy of the NF1 gene.
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 is chromosome 22 responsible for?
Chromosome 22 contains about 693 genes. Some are:gene to produce immunoglobulingene to make neurofilamentsgene for light chains of antibodiesDamaged genes can cause:Schizophreniabilateral acoustic neuroma (hearing loss)22q13 deletion syndrome (autism)Breast canceramyotrophic lateral sclerosis (ALS)neurofibromatosis
How can neurofibromatosis be diagnosed?
Neurofibromatosis is usually diagnosed when the patient has 10 or more cafe-au-lait spots.
Which of the following is an example of an autosomal dominant disease A Huntington's disease and neurofibromatosis type 1 or B Alzheimer's Disease and Heart Disease?
A. Huntington's disease and neurofibromatosis type 1 are examples of autosomal dominant diseases. These conditions are caused by a single copy of a mutated gene on an autosome (non-sex chromosome) and can be passed down from one affected parent to their offspring with a 50% chance of inheritance.
Who does neurofibromatosis affect?
Every one idiot
Are there any support groups for neurofibromatosis?
Yes, there are support groups for neurofibromatosis. The Children's Tumor Foundation, NF Network, and NF Australia are some organizations that offer support and resources for individuals and families affected by neurofibromatosis. These groups provide opportunities for connections, information sharing, and emotional support.
Is neurofibromatosis tranferable threw intercourse?
Neurofibromatosis - is a genetic condition... nota communicable disease. You cannot 'catch' it from a sufferer by way of intercourse with an affected person.
Did Earnhardt have neurofibromatosis?
There is no public evidence to suggest that Dale Earnhardt had neurofibromatosis. Neurofibromatosis is a genetic disorder characterized by the growth of tumors on nerves, and while Earnhardt had various health concerns throughout his career, there has been no indication that he suffered from this specific condition. His death in a racing accident in 2001 was attributed to head injuries rather than any underlying medical condition like neurofibromatosis.
Where can a person go to find detailed information on neurofibromatosis?
The NHS website has detailed information on neurofibromatosis. They have details of the diagnosis, causes, symptoms and possible treatments for the condition.
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.
Is there a cure for neurofibromatosis?
no, not yet, but they are working to find one!
