Fragile X Syndrome

[kissesbykim]

DS7 is having genetics testing on Wednesday. Symptoms seems to fall into place while researching Fragile X. The neuro suggested we have him tested. DS also has leukemia and I'm worried it will change his risk category from standard/standard to high risk. Any insight at all? Even just from a non leukemic situation?

 

[dogodisney]

I don;t have any incite for you but my GDG(8) just had blood work done for genetic testing. The geneticist mentioned possible Fragile X. I was told it will take 4 weeks to get the results. The doctor also had X-rays done of her hands and feet.
If you don't mind my asking, what are your son's characteristics?

 

[tink15823]

Hi I don't have a lot of info .Our Ds 7 had the fragile x done and it came back ok it turned out he just has a delayed development and ADHD . I went nuts waiting for children's to get back to us. Hope everything works out. So sorry to hear he is going through it.

 

[MommaGinger]

DS7 is having genetics testing on Wednesday. Symptoms seems to fall into place while researching Fragile X. The neuro suggested we have him tested. DS also has leukemia and I'm worried it will change his risk category from standard/standard to high risk. Any insight at all? Even just from a non leukemic situation?

I'm sorry to hear about the trouble your DS and your family is having. My DD just had genetic testing. While her fragile x came back negative we found out that she does have a deleted chromosome which is most likely the cause of her delays. We are waiting to get a follow up appointment to discuss the findings. I don't have much insight but my thoughts and prayers are with your family. Good luck.

 

[dogodisney]

DS7 is having genetics testing on Wednesday. Symptoms seems to fall into place while researching Fragile X. The neuro suggested we have him tested. DS also has leukemia and I'm worried it will change his risk category from standard/standard to high risk. Any insight at all? Even just from a non leukemic situation?

Did you get the result from the testing?

We got the results back for my DGD. It was negative for Fragile X but she has an extra chromosome. It is 2p duplication which from what I have read is rare. It does not have a "name".

Good Luck with the diagnosis.