Fragile X Syndrome By: Maddy Holman

What is Fragile X Syndrome?

Fragile X is a chromosomal disorder in which the codon CGG repeats extensively at the end of the X Chromosome. This causes the FMR-1 gene, the Fragile X Mental Retardation 1 gene, to turn off. Since the FMR-1 gene has been turned off, the protein it produces, called synaptic functional regulator FMR1, is no longer being produced. Synaptic functional regulator FMR1 promotes healthy brain development

Who discovered Fragile X Syndrome?

James Purdon Martin(left) and Julia Bell discovered Fragile X and how it is related to the X Chromosome in 1943. Herbert Lubbs (right) discovered how to test for Fragile X in 1969.

Can Fragile X Syndrome be tested for? How?

Fragile X can be tested for. The patient should be displaying some of the outward signs of Fragile X prior to being tested. To test for Fragile X, the patient must have a chromosome test done. When their test is being processed in a lab, the X chromosome will be checked for a fragile end. Fragile X Syndrome has no cure, but support groups and therapies may help to improve the patient's life.

What does Fragile X Syndrome look like on a chromosomal level?

What are the symptoms of Fragile X Syndrome?

Fragile X Syndrome has many symptoms. The most common symptom of all is a mental disability. People with Fragile X also tend to display autistic behaviors, hyperactivity, developmental delay and more. Examples of autistic behaviors might be anywhere from social shyness to difficulty with sensory processing. Physically, people with Fragile X Syndrome tend to have larger, longer faces with large ears. A person with Fragile X Syndrome will have an average lifespan with proper therapy and support.

How can a person get Fragile X Syndrome?(1:53-2:36)

No particular race or ethnicity are particularly prone to Fragile X Syndrome. It is more common in males than females. About 1 in 4,000 males will be born with Fragile X Syndrome, while 1 in 8,000 females will be born with Fragile X Syndrome. Fragile X SYndrome in general is fairly rare. The United States sees fewer than 200,000 cases of Fragile X Syndrome a year

is any research going on to help cure/treat Fragile x syndrome?

FRAXA is a non-profit organization that has been working since 1994 to find the cure for Fragile X Syndrome. Multiple winners of the Nobel Prize are apart of their staff, including James Watson who helped discover the structure of DNA.
The National Fragile X Foundation has been around since 1998. NFXF's goals are to provide education and support to people effected by Fragile X Syndrome and to fund research projects working to cure Fragile X.

What sources were used for this page?

Chen, Michelle. "Fragile X Syndrome.". Accessed 5 Feb. 2017.

FÉLIX, TÊMIS MARIA, and JOÃO MONTEIRO DE PINA-NETO. "Fragile X Syndrome." SciFloBrasil, www.scielo.br.

Fragile X Sydrome. Digital file.

Fragile X Syndrome. Digital file.

"Fragile X Syndrome- Neda Zadeh, MD." Youtube, 11 June 2015, www.youtube.com. Accessed 1 Feb. 2017.

FRAXA: Finding a Cure for Fragile X. www.fraxa.org. Accessed 5 Feb. 2017.

"History of Fragile X Syndrome." Friends For Fragile X, www.friendsforfragilex.org. Accessed 5 Feb. 2017.

"Learning About Fragile X Syndrome." National Human Genome Research Institute, 27 June 2016, www.genome.gov. Accessed 1 Feb. 2017.

National Fragile X Foundation. fragilex.org. Accessed 5 Feb. 2017.

"Teal." Find The Data, Graphiq Inc., colors.findthedata.com. Accessed 31 Jan. 2017.

"What is Fragile X Syndrome?" YouTube, 24 Mar 2016, www.youtube.com. Accessed 31 Jan. 2017.

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