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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 the human 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; however, if the person has extra copies of genes due to a chromosome abnormality, then those extra copies can cause the genes to not work properly.

This is an important distinction to make. Consult your health care provider or genetic counselor for more information.

Reviewed Date: 06-23-2013

Diferencia entre una Anomalía Cromosómica y un Defecto en un único Gen

Disclaimer: This information is not intended to substitute or replace the professional medical advice you receive from your child's physician. The content provided on this page is for informational purposes only, and was not designed to diagnose or treat a health problem or disease. Please consult your child's physician with any questions or concerns you may have regarding a medical condition.