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by May1217
Last updated 7 years ago

Health & Fitness

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What is Neurofibromatosis?

Phenotypic Characteristics:- Cafe au Lait Spots appears on the skin (brown spots- more than 5)-Freckling under the arm and groin area-Lumps on/under the skin

Neurofibromatosis 2:Diagnosed by: -Loss of Hearing (due to tumor growth on auditory nerve)-Ringing in Ears-Loss of Balance

NeuroFibromatosis 1:Diagnosed by:-Bone deformaties; abnormal skeleton, thinning or overgrowth of the bone (arm and/or lower leg)-Scoliosis (cruvature of the spine)

Neurofibromatosis is when tumors (benign or noncancerous) grow on neural tissue

Inheritance Pattern:-Autosomal Dominant Disorder-NF 1: caused by change in gene on chromosome 17-NF 2: caused by change in gene on chromosome 22

Non Profit Organization:-Childrens's Tumor FoundationA non-profit organization focused on researching NeurofibromatosisMissiion Statement: "...dedicated to improving the health and well being of individuals and families affected by Neurofibromatosis."

Life Expectancy/Statistics:-Symptoms occur during puberty-Patients diagnosed with mild symptoms = lead happy healthy lives-Patients with serious symptoms = can lead a healthy life with treatment-Only 3-5% of patients have cancerous tumors-Disorder is distributed worldwide and affects both genders, race, geographical location equally. It can appear in any family

Genetic Problem:Levi and Petra would like to have children. Unfortunately, Petra has Neurofibromatosis caused by an autosomal dominant alelle. Levi has no family history of neurofibromatosis. Petra's mother is a carrier of the disorder and her father doesn't have the disorder. Determine the genotype of Petra (Use "R" as the dominant allele and "r" as the recessive), draw a punnet square that shows the cross between Levi’s and Petra’s gametes and calculate the possibility of their offspring having the disorder.

Created by: Maria Ale

Bone deformaties in the spine and tibia


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