what is a disease caused by chromosomal mutations
1 Genetic mutationâ A permanent change in a gene that can be passed on to children. 2  The rare, early-onset familial form of Alzheimer's disease is associated with mutations in genes on chromosomes 21, 14, and 1. 3  Genetic risk factorâ A change in a gene that increases a person's risk of developing a disease.f a person inherits from a parent a genetic mutation that causes a certain disease, then he or she will usually get the disease. Sickle cell anemia, cystic fibrosis, and early-onset familial Alzheimer's disease are examples of inherited genetic disorders.