Fragile X Syndrome Support Group

Fragile X is an X-linked disorder, carried on the X chromosome, because you are female you have two X chromosomes, and each has a Fragile X gene - FMR1. On your one X chromosome your CGG repeats are in the normal range. CGG repeats are normal between 6-44, Intermediate range is 45-54, premutation range is 55-200, full mutation is over 200. There are a couple of websites that you might find helpful,

From the CDC
http://www.cdc.gov/ncbddd/fxs/video...

Your Genes Your Health - Fragile X Page
www.ygyh.org

I'm not sure what test exactly they ran on you but there is a newer test that will also look at the AGG repeats and it can identify how stable an intermediate CGG range is - is it at risk for expanding to higher CGG repeat numbers in future generations? With such a low number it may only expand (if it does) to a premutation range, the next generation after this would have a much higher risk of having a child with a full mutation.

You may also want to visit a genetic counselor, but in all honesty the information they can help you with may only be limited by their knowledge of fragile X. You may want to connect with someone at the National Fragile X Foundation, they have a toll free number and they might be able to connect you with a knowledgeable genetic counselor over the phone.

www.fragileX.org - The National Fragile X Foundation
www.fraxa.org - Fraxa Research Foundation

This is an excellent article, in layman terms, that describes fragile X across the generations and it's impact on those who are carriers and those who have the full mutation.


Time Article – Fragile X: Unraveling Autism's Secrets
http://www.time.com/time/magazine/a...

Please feel free to connect with me if you like.

(((hugs)))

In response to the comment above, i have 94 repeats and my daughter, who we just got her results last week, has 514 repeats. I really didnt think hers would be anywhere near that high!

I'm sorry I am no help at all. Good luck with all your research!

thank you so much for the input

*sallynada: why do you think some websites have the number 55 in the "Intermediate or Grey Area Alleles" while others have that # in the premutation range? thanks again

*aidensmommy: so if you have 94, does that your parent (guessing father?) have a decreased number, but also a carrier??
my niece is doing great and she has the full mutation so it does impact boys and girls differently as you probably already know, thanks again

sallynada: forgot to mention that my report says "dna studies by PCR and Southern blot"

Repeat range may be dependent on study, and also dependent on the actual credibility of the site you are referencing, i.e. NFXF and FRAXA, and the CDC all use 55-200 as a premutation range. FMR1 or Fragile X DNA testing IS Southern Blot with PCR analysis. American College of Medical Genetics (ACMG) have had practice guidelines for diagnosis of FX since 1994, they were revised in 2005 (added guidelines for FXTAS and recommendations that anyone tested by chromosome analysis should be retested due to that test being unreliable).

Actually I got it from my mom, she has 72 repeats. :-)

http://www.intelihealth.com/IH/ihtI...

salllynada: the above is one of the websites noting just a slight difference in numbers. Intermediate: Between 41 and 58 repeats is a "gray zone." Pre-mutation: 59 to 200.
For intermediate: "When the gene is passed on, the number of repeats may increase, but usually not enough to cause a problem. The child would not have fragile X." I was wondering is there any way of finding out by how much a repeat would increase from one generation to the next ?? as i mentioned in the original post, i'm in the process of trying to conceive and i'm extremely concerned about this....

aidensmommy: from 72 to 94 to 514 -- is it known how the # increased signficantly? did you know prior to your pregnancy?