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
- 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
- Our specialists
- 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.
From out of town? The Access Center can provide assistance in coordinating appointments, insurance, etc. Use our online form or call: (414) 266-6300.