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Medical Genetics

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.


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725 Welch Road
Palo Alto, California 94304
(650) 497-8000


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