If you have a child found to have Nijmegen breakage syndrome, there is a 25% (1 in 4) chance with every pregnancy to have another child with the same condition. You can test further pregnancies or children at birth for this condition. Since this condition is inherited, you and your partner should also have testing for the same mutations found in your child. People who have a mutation in only one copy of the NBN gene are called carriers. This means that they carry one mutation but do not show symptoms of Nijmegen breakage syndrome. These individuals may be at increased risk for various types of cancers and should discuss their carrier status with their doctor or genetic counselor. In addition, you and your partner’s siblings, parents, and other relatives can consider testing for the same genetic mutations to learn more about their risks.
Other Questions About Nijmegen breakage syndrome (NBS)
- Will there be time for me to ask questions during my genetics clinic visit for Nijmegen breakage syndrome?
- Who else in my family should I test for Nijmegen breakage syndrome?
- Where do I find clinical research in Nijmegen breakage syndrome?
- Where can I go to read about the most up to date research in Nijmegen breakage syndrome?
- Where can I go to learn more about variants of uncertain significance in Nijmegen breakage syndrome testing?
