The Difference Between a Chromosome Abnormality and a Single
Gene Defect
What is the difference between a chromosome abnormality and
a single gene defect?
There are approximately 70,000 genes contained on the 46 chromosomes
in each cell of our body. This means that one chromosome contains
thousands of genes. A person can have normal chromosomes in number
and structure, but still have a disease or condition caused by
a mutation in one or more of the genes on the chromosomes. A single
gene defect usually does not cause the chromosome structure or
number to be abnormal.
Similarly, a person can have normal genes, but, because they
have extra copies of genes due to a chromosome abnormality, the
extra copies can cause the genes to not work properly.
This is an important distinction to make. Consult your physician
or genetic counselor for more information.
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