Match each of the following as to whether they are examples of incomplete penetr
ID: 53566 • Letter: M
Question
Match each of the following as to whether they are examples of incomplete penetrance or variable expressivity:
- many people with a mutation in the BRCA1 or BRCA2 gene will develop cancer during their lifetime, but some people will not.
- inherited polydactyly
- Marfan syndrome
- Neurofibromatosis patients can have a combination of musculoskeletal disorders, pigmenting of the skin, eye disease, and even a combination of neurobehavioral disorders. They may exhibit only one of these, or multiple symptoms.
- Phenylketonuria, where inactivating mutations in the PAH gene encoding the enzyme phenylalanine hydroxylase lead to severe intellectual disability in the context of a normal diet, whereas a life-long phenylalanine-restricted diet makes possible a relatively healthy life.
- many people with a mutation in the BRCA1 or BRCA2 gene will develop cancer during their lifetime, but some people will not.
- inherited polydactyly
- Marfan syndrome
- Neurofibromatosis patients can have a combination of musculoskeletal disorders, pigmenting of the skin, eye disease, and even a combination of neurobehavioral disorders. They may exhibit only one of these, or multiple symptoms.
- Phenylketonuria, where inactivating mutations in the PAH gene encoding the enzyme phenylalanine hydroxylase lead to severe intellectual disability in the context of a normal diet, whereas a life-long phenylalanine-restricted diet makes possible a relatively healthy life.
Explanation / Answer
-many people with a mutation in the BRCA1 or BRCA2 gene will develop cancer during their lifetime, but some people will not.- Incomplete penetrance
- inherited polydactyly - Variable expressivity
- Marfan syndrome- Variable expressivity
- Neurofibromatosis patients can have a combination of musculoskeletal disorders, pigmenting of the skin, eye disease, and even a combination of neurobehavioral disorders. They may exhibit only one of these, or multiple symptoms.- Incomplete penetrance
- Phenylketonuria, where inactivating mutations in the PAH gene encoding the enzyme phenylalanine hydroxylase lead to severe intellectual disability in the context of a normal diet, whereas a life-long phenylalanine-restricted diet makes possible a relatively healthy life.- Variable expressivity