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 an unusual gap that appears broken. The gap on the chromosome is called a ‘fragile site,’ which is where the name originates from. Fragile X is a cureless mutation that is genetically passed down to offspring, so researchers are currently attempting…
Fragile X syndrome (FXS) is identified as the leading monogenic cause of autism and congenital mental retardation. It is estimated that the frequency of FXS is 1/7000 males and 1/11,000 women (Hunter et al., 2014). In Australia, since one child is born with Fragile X every week, around 1 in 3600 boys and in 4000 – 6000 girls suffers this syndrome with the higher severity in boys. Position of the causative gene for FXS named fragile X mental retardation gene 1 (FMR1) was found at the diagnostic…
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…
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…
multiple poetic elements to illustrate the fragile nature of life and how easily it goes away. These elements come together to testify of the insignificance of one human life. The poetic elements which illustrate this topic of nature and death are done through, imagery, personification and tone. I will first discuss examples of imagery. Frost uses imagery to express what he wants to say. Frost uses imagery when he describes the setting of the place. He tells the readers that the boy is…
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 syndrome or Martin Bell syndrome is a genetic passed disease that affects the early devolvement of the brain that causes mental retardation and has many of the same physical appearances. Fragile X affects males more often than females. This inherited disease is extremely rare and affects 1 out of 5000 kids. This syndrome is caused by a mutation on the X chromosome more specifically the FMR-1 gene that generally affects the early devolvement of the brain. Many symptoms of this disease…
Fragile X. Although it may sound similar to a portion of Area 51, Fragile X, also known as FXS or Martin Bell Syndrome, is a serious condition which affects over 200,000 americans each year. Being a quite common gene disease, FXS is known to affect men more than the opposite female gender. In addition to education and physicality, adolescents with this disease also battle the effects of their condition as well as the challenges they face in everyday life. Over the years, Fragile X has…
Fragile X Syndrome (FXS) is a type of triple repeat disorder that is prevalent in both males and females. FXS is inherited and causes the person to have an intellectual disability (Batshaw, Roizen, & Lotrecchiano, 2013). References Batshaw, M.L., Roizen, N.J., & Lotrecchiano, G.R. (2013). Children with Disabilities (7th ed.). Baltimore, MD: Brookes McDuffie, A., Machalicek, W. A., Bullard, L., Nelson, S., Mello, M., Tempero-Feigles, R., & ... Abbeduto, L. (2016). A…
The World Is Glass Neil Gaiman once wrote, “There are so many fragile things, after all. People break so easily, and so do dreams and hearts.” Tennessee Williams’ play The Glass Menagerie is a prime example of just how fragile people can be. The play is set in the St. Louis apartment where Amanda and her two kids, Tom and Laura, live. Laura spends her time playing with her glass menagerie while Tom works. Laura barely goes out because she is crippled and socially awkward, so her mother…