In this section
Genetics and genomics
- About medical genetics
- Chromosome abnormalities
- Genetic services: when, where, how
- Identification, treatment and prevention of birth defects
- Multifactorial inheritance
- Neurofibromatosis and related disorders
- Non Traditional Inheritance
- Rasopathy disorders
- Single gene defects
- Genetics and genomics support groups
- Teratogens
- The difference between a chromosome abnormality and a single gene defect
- Tuberous sclerosis
- Uses of genetic testing
- Programs and services
- Additional resources
- Patient stories
- Become a patient
- Genetic contact us
- Locations
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- For medical professionals
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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