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.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110946/

http://www.ncbi.nlm.nih.gov/books/NBK1384/

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