Fragile X

Ensuring a healthy and successful pregnancy

What is Fragile X

Fragile X syndrome is a genetic disorder that is characterized by intellectual disabilities, social and behavioral challenges, and various physical features. It is the most common inherited cause of intellectual disability and autism spectrum disorder. Fragile X syndrome is caused by a mutation in the FMR1 gene, located on the X chromosome.

In individuals with fragile X syndrome, there is a repetition of a specific section of the FMR1 gene called CGG repeats. Normally, this gene contains between 6 and 54 CGG repeats, but in individuals with fragile X syndrome, there are over 200 repeats. Males are severely affected while carrier females experience premature ovarian failure.