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For example, a human cell has 46 chromosomes. In the karyotype, 23 pairs of chromosomes will be shown (23 x 2 = 46). A karyotype can show different types of mutations, depending on which chromosome it affects.For example, Down Syndrome is a trisomy in chromosome 21, so there will be THREE instead of two chromosome 21s. You can research more mutations shown by chromosomes in a karyotype.or example, a human cell has 46 chromosomes. In the karyotype, 23 pairs of chromosomes will be shown (23 x 2 = 46). A karyotype can show different types of mutations, depending on which chromosome it affects.
Many mutations have no effect at all. These are called silent mutations. But the mutations we hear about most often are the ones that cause disease. Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others.All of these disorders are caused by the mutation of a single gene.Most inherited genetic diseases are recessive, which means that a person must inherit two copies of the mutated gene to inherit a disorder.any mutations have no effect at all. These are called silent mutations. But the mutations we hear about most often are the ones that cause disease. Some well-known inherited genetic disorders include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others.