Fragile X syndrome
Diagnosis and Testing
Who else in my family should be tested for fragile X syndrome?
The following people should be tested for Fragile X syndrome:
- The mother of first individual in the family diagnosed with fragile X syndrome. This is to determine if she has the premutation (55-200 CGG repeats) or has the full mutation (greater than 200 CGG repeats).
- Any siblings (male or female) who have intellectual disability, developmental delay, autism, or behavioral characteristics of individuals with fragile X syndrome.
- In the mother’s extended family, any individuals who have intellectual disability, developmental delay, autism, or behavioral characteristics of individuals with fragile X syndrome, and any women who may want further counseling regarding their chances of having a child with fragile X syndrome.
- Any babies of known premutation carriers.
- Women who are experiencing difficulties becoming pregnant or symptoms of ovarian failure prior to the age of 40.
- Men and women who are experiencing late onset intention tremor and cerebellar ataxia of unknown origins.
To learn more information and find a fragile X syndrome clinic near you, please visit https://fragilex.org/treatment-intervention/fragile-x-clinics/.
Sherman S, Pletcher BA, Driscoll DA. Fragile X syndrome: Diagnostic and carrier testing. Genetics in Medicine. 2005;7(8):584-587. doi:10.1097/01.GIM.0000182468.22666.dd.