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Fragile X Syndrome

Also called: FXS, Marker X Syndrome, Martin Bell Syndrome

- Summary
- About FXS
- Types and differences
- Risk factors and causes
- Signs and symptoms
- Diagnosis methods
- Treatment options
- Prevention methods
- Questions for your doctor

Reviewed By:
Robert Daigneault, M.D

Questions for your doctor regarding FXS

Preparing questions in advance can help patients and parents have more meaningful discussions with their physicians regarding their or their child’s treatment options. The following questions related to fragile X syndrome (FXS) may be helpful:

  1. To my knowledge, no one in my family has FXS. Do you recommend genetic testing to see if I’m a FXS carrier?

  2. Could I be an FXS carrier and not show any symptoms of the condition?

  3. A member of my family has a child with mental retardation. Could FXS be the cause? If so, does that mean I could be a FXS carrier?

  4. How is genetic testing for FXS performed?  How do we prepare for this test?

  5. If I’m a carrier of FXS, should others in my family be tested as well?

  6. What are the chances that my partner and I will have a child with FXS?

  7. I’m pregnant. Do you recommend DNA testing to identify whether my child will have FXS?
     
  8. Why is it important to identify FXS as the cause of my child’s mental retardation?

  9. What signs should I look for in my infant or toddler that may indicate FXS?

  10. What treatments do you recommend for my child’s FXS symptoms?

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Review Date: 02-09-2007
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