Essay On Fragile X Syndrome

Fragile X syndrome is defined as a genetic condition that causes intellectual disabilities, behavioral and learning challenges and various physical characteristics. This syndrome, being a genetically heritable disease, is X-linked. This makes the disease more commonly observed in males than females, about two to one. Males have roughly a one in four thousand chance of getting the syndrome and females have about a one in eight thousand chance (Bostrom). Some general characteristics can be seen as Low muscle tone, hyper extensible joints, high arched palate, connective tissue issues. They can also have mild facial dysmorphia seen as an elongated face, large ears, prominent jaw, and soft skin (Dean). Fragile X syndrome represents the most common cause of intellectual disabilities and is the leading cause of …show more content…
Not having these parts of the brain fully developed will lead to the development of behavioral and leaning problems. This paper will discuss how Fragile X Syndrome is visible in effected individuals, the behavioral problems, intellectual problems, and treatments. Fragile X syndrome is an X-linked genetic condition, as stated earlier. This is caused by a mutation in the gene “Fragile X Mental Retardation 1” or more commonly referred to as “FMR1” (Dean). This is shown by the added repeats of the “CGG” triplet code. This added repeats causes the silencing of the FMR1 gene that leads to the development of Fragile X syndrome and in most cases an intellectual disability. The number of repeats that the “CGG” code has makes a big difference on how sever the syndrome is. There are four forms of classifications that are used when determining the severity of Fragile X syndrome, first being “Normal”. This is classified as the code having five to forty-four repeats, the next is inconclusive, grey zone, or boarder line from forty-five to fifty-four. The third classification is fifty-five to two hundred and this is the premutation, and finally anything more