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Monday, July 24, 2017

Fragile X

Fragile x is a common inherited syndrome. It can cause intellectual disablities and affects one in everyy 2,000 males and one in every 6,000 to 8000 females. 


Fragile x syndrome is the result of one single gene the Fragile x mental retardation gene. This gene is located on a x chromosone. A three base sequence of DNA is repeated over 200 times. The abnormal repetition of bases creates the appearance of a gap on the long x chromosome.

The gene is responsible for providing instructions for making a fragile x mental retardation protein. The protein is required for the brain to develop. It plays a role in nerve system as well. When Fragile x oocurs the brain does not develop normally and the gene is switched off. The protein is not produced



Boys with Fragile X syndrom have developmental delay, they reach developmental milestones later than other childreen. They may have moderate to severe learning disabilities as well as behavioral problems, hyperactivity and autism. As boys with fragile x grow you may notice larger ears, high forehead, flat feet or/and flexible finger joints.

Girls with fragile x have fewer problems normally. Mild behaviors may be noticed and around 50% of girls with fragile x may be mental retarded.

While there is no cure for fragile x. Medication may be used for certian symptoms.



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