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| | 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 25,000 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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Lucile Packard Children's Hospital is located in Palo Alto, adjacent to Stanford University Hospital, approximately 20 miles north of San Jose, CA and 40 miles south of San Francisco.
Lucile Packard Children's Hospital
725 Welch Road
Palo Alto, California 94304
(650) 497-8000
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