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Fragile X syndrome is a hereditary condition. It is caused by a mutation in the fragile X mental retardation 1 (FMR1) gene in the DNA that makes up the X chromosome. It is estimated that Fragile X Syndrome is evident in approximately 1 in 3600 males and 1 in 4000 females (The National Fragile X Foundation). There are many characteristics of Fragile X, but they may or may not be apparent in any or all carriers of the condition. ... Fragile X Syndrome gets its name from these specific chromosomes. On those people affected by Fragile X there is an unusual feature on the X chromosome. ... This location where the break appears is known as the “fragile X site” and that is where the syndrome gets its name. ...
Fragile X syndrome varies in its severity. ... Studies that have been done show that the seriousness of the syndrome depends on how many generations the fragile X chromosome has passed through. This is because each time the gene is passed on the excessive genetic material at the end of the fragile site expands (Weber, 10). ... So, in short, even though a person does not show any signs of Fragile X they may still be a carrier.
As of yet there is no cure for Fragile X Syndrome. ... Science has begun to explain the role of molecules in triggering fragile X. First of all the main biological cause of fragile X is that the person affected does not make a specific protein to fight off fragile X. With the absence of this protein fragile X has free range to install itself into the persons’ body. ... So this is where many of the impacts of fragile X are concentrated and this is where their affects are felt (FRAXA Research Foundation). ...
There are many physical characteristics of Fragile X Syndrome. ... More characteristics that can be possible are large or cupped ears, which could be connected to the loose connective tissue, vision impairments are also common, a very high and narrow palate (roof of the mouth), Scoliosis occurs in ten to twenty percent of males, which is also related to the loose tissue, Fragile X children have motor tics, jerky movements, which generally affect the face, arms, and legs. Children with fragile X syndrome often have a larger head in circumference and have a broader forehead then other children. ... Fragile X children have very soft skin, which is almost velvet like; this is also connected to the loose tissue. ... Last but not least, boys with fragile X syndrome are, in general, very attractive boys physically. ... This means that girls have two sets of “instructions” on their chromosome so they have one good one and one that has the fragile X on it. ... So with this it has been shown that girls are able to produce enough protein to fill the void that the fragile X causes. There are four main physical differences that girls have that distinguish them as having fragile X syndrome. ...
Another attribute of Fragile X Syndrome, besides the physical characteristics, are the ideas of learning disabilities and mental retardation. Depending on the severity of the learning disabilities the child can lead anywhere from a normal life to one that is always in need of watching. ... Most males with fragile X score low on IQ tests and have moderate mental retardation. Approximately ten to fifteen percent of males with fragile X have a borderline to normal IQ with slight learning disabilities (Weber, 17). ... Researchers find this to be because fragile X impairs a persons’ abstract reasoning skills. ...
Although children with fragile X have these mental reasoning delays they also have certain strengths in the same area.
Approximate Word count = 2995
Approximate Pages = 12
(250 words per page double spaced)
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