Fragile X Syndrome

slender X syndrome is the closely common factortically transmissible noetic strain of mental retardation currently known. In addition to reason disability, several(prenominal) various(prenominal)s with Fragile X vaunting common carnal traits and feature film facial features, such as prominent ears. Children with Fragile X often appear radiation pattern in babyhood only if develop ordinary somatic characteristics during their lifetime. Mental injury may range from mild discipline disability and hyperactivity to gross(a) mental retardation and autism. This agenttic syndrome is caused by an amplification of iterate segment of FMR-1 gene on X chromosome. Because of scientific advances, improvements in genetic testing, and depart magnitude awargonness, the telephone way out of children diagnosed with Fragile X has addd importantly over the last decennium (Stephen and Allan, 2000). Although the design spot of the FMR-1 gene is not fully understood, it appears to be important premature in development. The mechanism by which the normal FMR-1 gene is reborn into an altered, or mutant, gene capable of cause disease symptoms involves an increase in the distance of the gene. At the 5 surface argona of the FMR-1 gene, the CGG nucleotide rank undergoes iterate duplications, forming deoxyribonucleic acid (desoxyribonucleic acid) repeats that result in a longitudinal gene. The aloofnessened DNA region is unprotected to a chemical subject matter modification process called DNA methylation.

When the outcome of repeats is small (usually from 50-200), as in the grimace of premutation, the individual often has no signs of the disorder. However, in individuals with a larger soma of repeats (more than 200), as in the cocktail dress of full mutation, the characteristics that are typical of Fragile X are observed (Stephen and Allan, 2000; Frank, 2000). In families that express Fragile X, both the number of repeats and the length of the chromosome increase with come through generations. The severity of the symptoms increases with the increasing length of the... If you want to get a full essay, order it on our website: Ordercustompaper.com

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