Fragile X syndrome

Fragile X syndrome (FXS) is the most common heritable disease that results in abnormalities in brain development and function, resulting in intellectual disabilities (Brock & Hatton, 2010; Hinton et al. 2013; Tonnsen et al. 2013; Tranfaglia, 2011). It is caused by an excess repetition of 200 or more repeats (Tonnsen et al. 2013) of the CGG nucleotide on the fragile x mental retardation gene (FMR1), reducing and often preventing the production of the fragile x mental retardation protein (FMRP)…

Fragile X syndrome is a mutation that can occur on a segment of a human being’s DNA. The disease was first studied in 1943 by British physician James Purdon Martin and British human geneticist named Julia Bell. As a result, Fragile X is also referred to as the Martin-Bell syndrome because of their discovery. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained that victims of this mutation will possess an X chromosome with…

Introduction: Fragile X syndrome (FXS) is known to be the most common cause of inherited mental retardation and autism and is the second most common cause of genetically associated mental deficiencies, after Down syndrome. It is a trinucleotide repeat disorder resulting from an expansion in a CGG repeat in the region of the fragile X mental retardation-1 gene (FMR1) on the X chromosome (more than 200 repeats were found in the full mutation, while the normal number of repeats is 6–54 repeats).…

the couch next to him and introduced myself. It was blatantly obvious that he was nervous, but after a while he starting opening up. As Rina and I grew closer, so did Kumar and I. I was starting to learn all about him; he was diagnosed with Fragile X Syndrome, which means he is mentally challenged and has a great amount of social anxiety. What kind of life will he have as he grows older? I wondered if he knew he was different and if that was why he was clearly uncomfortable meeting new people.…

Fragile X syndrome is an intellectual genetic disability that causes behaviour problems, learning difficulties and various physical characteristics. Fragile X syndrome is the most commonly inherited intellectual disability and the most common cause of autism. The degree in which the disease affects people varies from mild learning difficulties through to severe intellectual impairment. This genetic disability is caused when the gene that normally produces a certain protein that helps with brain…

athletes and their families, to coaches and volunteers. The special Olympics is offered all over the world in nearly 170 countries. Nattie Adams is a special Olympics coach for people with intellectual disabilities such as, down syndrome, autisms, fragile x syndrome and other disabilities. She explained that people with intellectual disabilities may experience certain limitations in cognitive functioning and other skills, like, communication and self-care. These limitations can cause a child…

The “Ins and Outs” of “Out, Out---“ In the poem “Out, Out---“ by Robert Frost the title can immediately foreshadow the poems events. The words “Out, Out” is what the readers first read, and by the end of the story will realize why Robert Frost may have titled it that way. Robert Frost was born in San Francisco on March 26h in the year 1874. Frost started to become interested in poetry during high school and Harvard, even though he never officially received his college degree. Frost later…

Flaubert demonstrates Emma’s downward spiral through her posture and movements along with those imposed on her by others. Throughout Madame Bovary, Flaubert chooses and employs Emma’s specific positioning to serve as a lucid expression of the descending entrapment of her life’s decisions. Emma’s positioning refers to any bodily movement, expression or posture. These positionings reveal her various feelings of fear, desperation, seduction, and insecurity. These feelings appear through decisions…

Fragile X is a syndrome that I had little to no knowledge about before the presentation that Denise Devine gave us. From the presentation, I learned an array of information that will be helpful in my future. Denise touched upon a few topics that are important when understanding Fragile X syndrome. Fragile X the most common forms of mental impairment and is an inherited syndrome that is one of the leading developmental disabilities. One significant fact that is surprising is that Fragile X became…

Triple X Syndrome (Trisomy X) Genetic Disorders are diseases inherited through genetics. These disorders are usually scarce in number but affect one in thousands or millions of people. Trisomy X or Triple X syndrome is a genetic disorder that causes there to be three X chromosomes in a woman’s body. Trisomy X was discovered by a scientist named Patricia Jacobs in Edinburgh, Scotland. It was later named “XXX Syndrome” by a British pathologist and geneticist named Bernard Lenox after Patricia…