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Fragile X Syndrome

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Submitted By tesmallshaw
Words 439
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X

Resources: http://www.labcorp.com http://www.geneticdiseasefoundation.org http://www.fragilex.org http://www.nfxf.org/

Taylor Smallshaw
Although there is no cure, special education, speech therapy, occupational and behavioral therapy could offer help to someone diagnosed with Fragile X. Additionally, there are medical treatments for aggression, anxiety, hyperactivity, and poor attention, which are common characteristics of Fragile X. Syndrome.

There is no cure for Fragile X Syndrome.
Treatment
Fragile X Syndrome is a sex-linked inheritance of mental retardation.

Although it can be found in all ethnic groups, it is predominantly found in males.

There are physical and behavioral symptoms of Fragile X.

There is no cure for this disorder, however there are many treatments in which a patient suffering from Fragile X can participate.
Key Facts

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Fragile X Syndrome
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Frequency of Fragile X
Fragile X Syndrome can occur in all types of ethnic groups. However, it differs in the prominence in different genders. Because it is a sex-linked dominant gene, more males will be affected by this disorder. An estimated 1 in 4000 males are affected and 1 in 6000 females. One in 100/250 women are carriers for the gene. These female carriers often suffer from infertility and early menopause.

Fragile X Syndrome is one of the most common forms of inherited mental retardation.
Fragile X Syndrome is a sex-linked dominant disorder caused by a change or mutation in the DNA on an X-chromosome. This disorder is a tri-nucleotide repeat disorder. This means that the X chromosome carrying this trait has an overabundance of DNA, specifically CGG repeat. Typically, CGG is repeated 5 to 40 times. However in Fragile X individuals, it can be repeated over 200 times. This amount of CGG can stop the FMR1 gene. The FMR1 gene prevents mental retardation, therefore if the gene is stopped, Fragile X can occur. Family members who have no sign of Fragile X syndrome can pass it on.
This pedigree shows the line of inheritance of the disorder, Fragile X. Here, it is clear that more males are affected in comparison to females.

Physical: large or protruding ears, soft skin, flexible joints, low muscle tone, large testicles, long face.
Behavioral: speech and language delay, motor delay, hand-flapping/biting, and gaze aversion.
In adults: learning new skills, maintaining friendship.
Issues in females: mathematics, shyness, poor communication skills, mood swings, anxiety, ovarian insufficiency, and early menopause.
Family history: learning disability, females with infertility or premature menopause, adults with late onset psychiatric changes.

Symptoms of Fragile X
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Cause of Fragile X…...

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