Fragile X

[Bri_1985]

Finally a possible answer to my question involving the boys and possibly Logan. The Genetic Specialist is having me do a blood test for Fragile X. Apparently signs of Fragile X shows more in males than females because males only have 1 x-chromosome whereas females have two. But its passed to males through their Mothers.

Anyone know anything more about this?

[Bri_1985]

Bump

[ccoslop]

Hi there. I just saw this post, hopefully this helps. I am a Fragile X carrier in the Premutation category, which means I am one step below full mutation with CGG repeats of 91(which makes me premutation) and 54. I am currently pregnant and waiting another week to get a CVS done to see if this baby has any form of Fragile X or not. Yes, boys will show more signs due to only having one x. The genetic counselor explained that because girls have two x's, we can function with one x and instinctively researchers believe that we shut down the damaged x and keep the functioning one. I have a daughter that isn't even a carrier (phew) and I have miscarried with a son who had full mutation fragile x (worse case is full mutation). However, with both genders, they can show signs of Fragile X and the severity depends on their CGG repeats. Full mutation is over 200 and for boys this can be severe, but for girls this may mean (depending again on the specific number) that they may have a learning disability or emotional problems. Mental retardation and behavioral issues are typical of someone with fragile x... especially boys. I am well versed in this because this is pregnancy #2 and I have been through genetic counseling and have an entourage of high risk specialists that ultrasound every week to monitor progress.