Syndro me Sources:
• www.actionbioscie nce.org Kids with FXS
What is Fragile X
Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics
What Causes FXS
FXS is caused by the expansion or lengthening of the FMR1 gene on the X chromosome, known as a gene mutation. The
X chromosome is female chromosome. When the gene gets bigger, it switches off production of a protein that is involved in brain development and other functions.Normally, the X chromosome contains between 6 and
50 repeats of the FMR1 gene responsible for producing a protein vital for normal brain development.For some people, this gene might have about 50 and 200 repeats which is Fragile X pre-mutation and if you have it, you become a carrier of FXS. FXS actually happens when the FMR1 gene grows to over
200 repeats messing with the normal production of this protein and normal brain development. Testing for FXS
A diagnosis of Fragile X is made through a
DNA blood test.The blood can be collected by your doctor or a pathology center. Test results are usually available approximately 4 to 8 weeks after the sample is taken but the time taken can vary. 5-10 mls is taken.
Anyone can get FXS if its in there genes or parents genes.
According to govt. surveys, Ethical and social implications for fragile x are not as big as most medical conditions. 78% doctors believe testing for fragile x or to see if you are a carrier is a good thing.
FXS is a part of the Human Genome
Project because it has to deal with the X chromosome and what it does to people with it.
People who are carriers of the Fragile X gene often have high levels of anxiety.
Women who are carriers may experience
FXPOI or Fragile Xassociated primary ovarian insufficiency which causes early menopause. Men and women who are carriers can also develop FXTAS or
Fragile X tremor ataxia syndrome. Men are more