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One of two major types of neurofibromatosis is caused by having inherited a dominant allele of a gene, with affected individuals exhibiting mild to severe phenotypes. The strongest reason to explain why an infant is the first member of her family to be given a diagnosis with a severe form of the ailment is that one of the parents has a mild expression of the gene.
A neurofibromatosis is a group of genetic disorders that cause tumors to grow on nerve tissue. Tumors of the nervous system can be found anywhere in the body, which include the brain, spinal cord, and nerves. There are three types of neurofibromatosis: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis. NF1 is typically detected during childhood, whereas NF2 and schwannomatosis are generally diagnosed in adolescence or early adulthood.
Tumors in these diseases are typically non-cancerous (benign), however they can become cancerous on circumstance (malignant). Typically, the symptoms are mild. Hearing loss, learning disabilities, heart and blood vessel (cardiovascular) issues, vision loss, and severe pain are all possible complications of neurofibromatosis.
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