Fragile X Syndrome (FXS) By Ashley zheng

Information About FXS

  • FMR-1 is the gene that causes this mutation which produces the protein, synaptic functional regulator FMR-1
  • FXS was discovered by Martin and Bell in 1943, in which a certain mental retardation was X- linked. But it wasn't until 1991, when the gene was discovered.
Fragile X chromosome made visible by atomic force microscopy. The arrow indicates the fragile site.

Symptoms of FXS

  • Men are affected more by FXS than women.
  • Most males have mild to moderate intellectual disabilities.
  • Children may also have disabilities and hyperactive behavior including fidgeting and impulsive actions.
1 in 4,000 men are diagnosed with FXS and 1 in 8,000 women are affected.
DIAGNOSIS OF FXS: There are very few outward signs of FXS in babies. But there is a frequent appearance of a larger head circumference; other notable features will be more prominent in male babies but the head circumference might be the only sign of problem in female babies. As the child becomes older, the physical signs will become more pronounced. Including large ears, flat feet and a high forehead.

treatments and prognosis

  • There are no specific treatments to help with FXS.
  • But supportive therapy for children include special education and medication to control behavioral issues.
  • FXS is a lifelong condition and affects all aspects of life including school, work and social life.
  • People diagnosed with FXS have the same life expectancy as those who are not affected.

genetic pattern

  • FXS is an X- linked dominant pattern.
  • In women, the FMR1 gene premutation will expand to more than 200 CGG repeats.
  • This means that the expansion will develop into the eggs. This leads to a higher chance of having a child with FXS.
  • In men, the CGG codon will not expand to more than 200 repeats and will be passed on to the next generation. But this will only be passed on to the daughters because males have a Y and X chromosome while females have 2 X chromosomes.

Current research

A specific genetic test called polymerase chain reaction (PCR) can be performed to diagnose fragile X syndrome. The test looks for an expanded mutation in the FMR1 gene.



Friends for Fragile X. "History of Fragile X Syndrome - Friends for Fragile X." History of Fragile X Syndrome - Friends for Fragile X. Friends for Fragile X, 2010. Web. 02 Feb. 2017.

National Genome Research Institute. "Learning About Fragile X Syndrome." National Human Genome Research Institute (NHGRI). National Human Genome Research Institute, 27 June 2016. Web. 02 Feb. 2017.

Your Genome. "What Is Fragile-X Syndrome?" Facts. The Public Engagement Team at the Wellcome Genome Campus, 25 Jan. 2016. Web. 04 Feb. 2017.


Reidrobison. "What Is Fragile X Syndrome." YouTube. YouTube, 24 Mar. 2016. Web. 04 Feb. 2017.


Your Genome. "What Is Fragile-X Syndrome?" Facts. The Public Engagement Team at the Wellcome Genome Campus, 25 Jan. 2016. Web. 04 Feb. 2017.

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