123 School Work

Fragile X Syndrome

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  Fragile X syndrome is the most Inherited cause of mental impairment and the most common cause of autism (A complex development disability that usually appears during the first three years of life) and mental retardation. The full mutations of fragile X appear in approximately 1 in 3600 males and 1 in every 4000 to 6000 females, while 1 in 260 women are carriers. The symptoms are different for both males and females. In males, they usually have a significant intellectual disability, ranging from minor learning disabilities to severe mental retardation and autism. In addition to this, males may also have a variety of physical and behavioral characteristics such as short attention span, poor eye contact, a continued repetition of words or phrases, and large ears just to name a few. The symptoms experienced by females with fragile X are significantly less than that of the males. Only about a third of females with fragile X have a serious intellectual disability and the physical and behavioral features as seen in males, appear in a smaller percentage and to a lesser degree in females. A person who has fragile X has a mutation in their FMR1 (Fragile X Mental Retardation 1), which is the gene in the DNA that makes up the X chromosome. This mutation causes the cell to methylate a regulatory region of the FMR1 gene, which turns off the FMR1 gene. When this gene is turned off, the fragile X mental retardation protein is not made, which leads to Fragile X Syndrome...