Fragile X Syndrome Research Paper

Of course, these are not just symptoms of ALL and are more often caused by something other than leukemia. (p. 1)

It is important to contact a doctor immediately if these symptoms occur due to the severity of the illness.

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

All these symptoms would

Fragile X Syndrome is a genetic condition. FXS causes learning and behavioral challenges, intellectual disability as well as a variety of physical characteristics. Although Fragile X Syndrome can occur in males and females, males are affected more frequently than females are; furthermore, males with FXS generally experience characteristics with a greater severity than females with the condition do.

Fragile X Syndrome is a genetic condition causing intellectual disability, behavioural and learning challenges and various physical characteristics, it occurs in both genders but effects males more. Also is the most common gene for Autism worldwide, every week in Australia one child is born who is fully affected and 20 children are born who are carriers. It is estimated that 5 per cent of people with a diagnosis of an Autism Spectrum disorder also have Fragile X.

Fragile X Syndrome was identified in the year 1991. This disability affects more males than females. Approximately 1 in 4,000 males are affected, however only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene. Fragile X is caused by an excessively repeating tri-nucleotide,

The gene is mutated and it affects more males than females. Individuals with Fragile X have a large number of defects and disabilities including physical, cognitive, and neurobehavioral features (Jewell, J., 2004). This disability is caused by a gene that inactive which is the X chromosome. There is no known cure, yet, options are available to those who have this disorder. Individuals may receive speech therapy, physical therapy, and psychological services. For children attending school they may qualify for special education. Delays in cognition and learning are often associated with this syndrome. That's why; learning can be more challenging for these individuals. The impairments differ for those impacted with the syndrome. Accommodations are essential in order to meet the needs for each

People who are carriers of the Fragile X gene often have high levels of anxiety. Women who are carriers may experience primary ovarian insufficiency, which is a loss of normal function in your ovaries which means they don’t release eggs regularly, which causes early menopause. Men and women who are carriers can also develop Fragile X tremor ataxia syndrome (FXTAS), the breaking down of the brain. Men are more likely to develop FXTAS than women. FXTAS usually occurs at the age of 50. It can affect balance and memory, and cause tremors and other neurological problems. A person may be fully affected by Fragile X but not show all of these signs. Here are all of the symptoms under their given

Fragile X Syndrome, also known as FRAXA syndrome, fra(X) syndrome, FXS, marker X syndrome, or Martin Bell syndrome, is a disorder onset by a genetic mutation in the FMR1 gene. This gene produces a protein called FMRP which regulates the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells (National Library of Medicine, 2014). The FMR1 gene has a DNA segment called CGG triple repeat, which is repeated about 5 to 40 times in a typically developing individual. There are two type of mutations associated with Fragile X: A full gene mutation and a gene premutation. In cases of individuals with a full gene mutation, the CGG segment is repeated more than 200 times (National Library of Medicine, 2014).

Fragile X Syndrome, commonly known as FXS, is the most inherited form of mental retardation. From a study conducted by Emory University School of Medicine (2015), at least 1 out of every 4,000 males and 1 out of 8,000 females are affected with this abnormality (Emory University School of Medicine, 2015). At present, new information on how to live with FXS are discovered daily. This is helpful to further expand the current knowledge and methodologies that are attributed to FXS. There is currently no cure for this abnormality. However, there are many areas of control where physicians and other healthcare professionals can provide intervention to improve the quality of life for who are patients diagnosed with this illness. According to Randi and Paul Hagerman (2012), there is still more to learn regarding the characteristics of FXS. Given the broader spectrum of involvement associated with fragile X syndrome, this health concern is far more sensitive compared to how it is being presented in the news report or social media (Hagerman, & Hagerman, 2012, p. 3). The instability caused by FXS affect a significant minority of children. Since this is the most common form of inherited developmental disability, it is often under-diagnosed (Carvajal, & Aldridge, 2011, p. 13). Although much has changed since FXS was first discovered in the 1950s, there is limited awareness regarding this health concern (Carvajal, & Aldridge, 2011, p. 13). The purpose of this research paper is to provide a

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

Fragile X Syndrome is a genetic disorder in a individual genes. It can causes mental retardation.

Fragile X Syndrome is a genetic disorder caused by changes to the FMR1 gene. The FMR1 gene creates a protein that is necessary for normal brain development and it is located on the 23rd chromosome (which makes it X-linked dominant). It affects both females and males, but it is more likely to occur in males and typically presents more severely in males. It is estimated at 1 in 4000 boys are affected, while 1 in 8000 girls are affected. Most males and around half of females present with physical characteristics; long and narrow face, large ears, prominent jaw and forehead, flat feet, and low muscle tone, all of which become more apparent post-puberty. It causes a range of developmental disabilities, from learning disabilities to more serious

Men who exhibit the behaviors associated with FXS, then have inherited the disease from their mothers. To continue with the transmission genetics pertaining to this syndrome, it is also known that there are more than twice as many female carriers of the disease than male carriers (1). Of the approximately 1 in 259 women in the population who are carriers of the fragile x mutation, some are pre-mutation carriers and others are full mutation carriers. The former class is generally unaffected by the disease. The full mutation carriers, however, exhibit a range of mild to moderate behaviors associated with learning disabilities and retardation. Thus, the disease can vary in severity, a behavioral characteristic attributable to the varying degrees of expressivity of the mutant gene responsible for the disease.