Fragile X Syndrome

------------------------- Mariam Abd -----------------------

What is Fragile X Syndrome?

Fragile X Syndrome is a genetic condition that cause learning disabilities and cognitive impairment. It is the known gene that can cause autism. The individuals who are affected most likely start forming words by the age of 2. Fragile X Syndrome affect males more than it affects females. It is caused by a mutation on the FMR1 gene. This gene is located on the X chromosome .
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How is it inherited?

Fragile X Syndrome is a dominate trait. It is inherited on a X-linked dominant pattern. Males are the gender that inherited it most. Even though males are more affected by Fragile X, they cannot pass down the trait to their sons. That is the way it is because it is a X linked inheritance.

Research

The gene that causes Fragile X syndrome is called FRM1. This gene helps give information to make a protein called FRMP. This protein helps the development of other proteins and helps make synapses , which helps connection between nerves.Synapses help the nerves which help impulses. People with Fragile X cannot always control their impulses.

A cause of Fragile X Syndrome is the over repeating or a mutation in a DNA segment which is CGG. The normal repetition would be in the range of 5 to 40. But for those individuals who have Fragile X syndrome, their repetition is over 200

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What Are The Symptoms?

The symptoms of fragile X Syndrome could be facial appearances and mental problems as in autism, impulse control and more. For girls who have the full mutation have mild retardation. Affected boys will have trouble controlling their behavior. Such as hand flapping, temper tantrums, hyperactivity and autism. Boys might also go through poor eyesight, speech problems, heart and/or skin problems.
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How Can We Treat This?

There is no actual cure or treatment that cure this syndrome but there are things that parents and others can do to help. They can help by giving them speech therapy for their speech impairment. They can also provide one on one help for the child so that the child could learn a little bit faster. Also making a regular routine that the individual will remember and get used to is very good. A positive attitude is also heavily encouraged.

Citations

"Fragile X Syndrome." The Gale Encyclopedia of Medicine. 2015. Science in
Context. Web. 5 Apr. 2016.


"Fragile X Syndrome." Genetics Home Reference. U.S. National Library of
Medicine, 28 Mar. 2016. Web. 5 Apr. 2016. <https://ghr.nlm.nih.gov/
condition/fragile-x-syndrome>.


"Learning About Fragile X Syndrome." National Human Genome Research Institute.
NIH, 27 Dec. 2013. Web. 5 Apr. 2016. <https://www.genome.gov/
19518828>.

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