Fragile X Syndrome

I found out at my last appointment that I am an "intermediate" carrier for Fragile X Syndrome (a chromosomal defect that causes mental retardation and autism). My "repeats" were low enough that it's certain that my children are not at risk for the syndrome, but that future generations might be - numbers tend to get higher with successive generations.

Did anyone else have this? My OB wants me to see a genetics counselor for full info. I'm happy that my LO will be just fine, but this info is a little disconcerting and I don't know what to think.

Re: Fragile X Syndrome

I went through this a couple of months ago went to the genetic counselor and everything!

I have quite a long letter from the counselor describing Fragile x.

Basically for my "grey" zone number was 45. This is 1 repeat over what normal is. However no one with a number less than 56 has ever reported having a child with Fragile X syndrome.

Basically what we came to at the meeting was that because the # can further mutate through the generations should I have a girl, this is something to keep in mind and tell her when she is of child bearing age. If I have a boy, then its really not a big deal as the # of repeats only further mutates in females not males. So if a male has a 45 for example, they will always pass on a 45. Where as a female could have a 45 but pass on a 47 (lets just say - they dont know how they will further mutate through generations)

For our meeting my couselor basically went through our whole family tree, which shows really no genetic issues. And we already have a healthy son so she asked alot about him and his development. Then based on our number and family history she didnt recommend any further testing.

I know this was a long winded answer, but feel free to FM me if you have any other questions, the letter that our counselor from North Shore Genetics sent us is very indepth and informative!

Re: Fragile X Syndrome

Thank you so much for taking the time to explain this! I really, really appreciate it.

My repeats were 51 and 45. So I'm in just about the same situation as you. Your answer really helped me understand. Thanks again!

Re: Fragile X Syndrome