Fragile X Research Paper

A) Similarities between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.

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,

About 1 in 4,000 males and 1 in 8,000 females have Fragile X syndrome. Although Fragile X syndrome is rare, permutations in the FMR1 gene are common. A study we researched of 6,747 people found that 1 in 151 women and 1 in 468 men had the permutation. People with the permutation on the FMR1 may not have any symptoms of Fragile X. This permutation on the FMR1 can change from generation to generation, which can cause Fragile X syndrome. Fragile X is usually less common in females. A female usually inherits two X chromosomes, one from each parent (XX). If one of the X chromosomes has the fragile X mutation, and the other X chromosome does not, that can give incorrect genetic information. About half of affected females do not show any symptoms of fragile X syndrome because one X chromosome that is not affect over shadows the X chromosome that is affected. In males, fragile X is more common and even worse. A young male usually inherits one X chromosome (XY). If that X chromosome has the fragile X mutation, the male will more than likely have the full permutation of Fragile X because the Y chromosome does not carry the genetic

It mostly affects males, who receive the abnormal X gene. Females with one abnormal X chromosome may have some effects of the gene, but the normal X chromosome can offer some protection against the gene. Fabry Disease occurs in all ethnicities and races. Type I occurs in 1 out of 40,000 males and type II is more common affecting 1 in 1,500 to 4,000 males. The prevalence of Fabry Disease in females in unknown due to the disease being X-linked. Unlike other X-linked disorders, Fabry disease causes significant medical problems in many females who have one altered copy of the GLA gene. These women may experience many of the classic features of the disorder, including nervous system abnormalities, kidney problems, chronic pain, and fatigue. They also have an increased risk of developing high blood pressure, heart disease, stroke, and kidney failure. The signs and symptoms of Fabry disease usually begin later in life and are milder in females than in their affected male relatives (ghr,

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

My genetic disorder is Fragile X Syndrome. Fragile X Syndrome is a disorder that causes you to take more damage when you hurt yourself and affects your ability to think. This disorder is tied to the X chromosome and nothing contributes to it, but it does contribute to De Grouch Syndrome. De Grouch Syndrome has more advanced affects. The cause is a boy inherits an X chromosome from only his mom but a girl can inherit it from mom or dad.

Fragile X syndrome (FXS) is among the most common cause of inherited intellectual disability in humans, associated with a range of social, behavioural and cognitive impairments and it is inherited as an X-linked dominant disorder with reduced penetrance. The primary cause of FXS is the expansion of a CGG trinucleotide repeat located in the 5’ untranslated region (UTR) of the X-linked FMR1 gene. (Huddleston L.B., Visootsak J., Sherman S.L., 2014) It affects both males and females with a prevalence of 1 in 4000 males and 1 in 7000 females; however affected females tend to have a lower degree of cognitive disability and a less severe phenotype, relating to the degree of X-inactivation on the abnormal chromosome. Male patients with FXS present

The Fragile X Syndrome is a trinucleotide expansion of “CGG” repeats. It repeats in the untranslated region of the gene which reduced or absent the amount of protein production. Based on what have learned from genetic class, the “CGG” repeats up to 6 to 40 times, but if it is permutation they will beyond 200 times. We also touch the bases of Fragile X Syndrome in the lecture of cognitive Disabilities where it have concluded that CGG repeats begins from the FMR1 gene. The FMR1 gene is associated with Ribonucleic acid which helps to regulate the other genes that are associated with neurons.

“Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is expanded” (National Human Genome Reasearch Institution, 2013). Even though it affects both males and females, females usually have a milder case. The FMR1 (fragile x mental retardation 1) makes a protein, called fragile X mental retardation protein. People that have fragile X, do not produce this protein. Both

Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner Syndrome develop as females. Some of the genes on the X chromosome are involved in the growth of your height and sexual development, which is why girls with this disorder are shorter than normal and have incompletely developed sexual characteristics. Within this disorder there can be many symptoms, for example: swelling hands and feet, heart defeat, pregnancy chorionic villus sampling or amniocentesis. There are also major causes contributing to this disorder including a stocky build, arms that turn out slightly at the elbow, receding low jaw, a short webbed neck and low hair line on the back of the neck. Also includes backtracked puberty, ovaries undeveloped properly and effects sexual development.

The XYY Syndrome is a rare chromosomal disease that affects males by having two Y chromosomes instead of one. Those affected are usually taller, have learning disabilities, excess acne problems (during adolescence), and behavior problems. Although they do have learning disabilities, their IQs are mostly normal, although slightly

The list of symptoms includes, “Mildly unusual physical features, such as tall stature, a small head and a vertical fold of skin that comes down across the inner angle of the eye, developmental issues such as delayed language skills and delayed motor skills, which can result in poor coordination, awkwardness, and clumsiness, behavioral and emotional difficulties, seizures, kidney problems,” (Nordqvist,What is Triple-X Syndrome?) Most girls affected with the syndrome have normal sexual development are able to conceive children. Though most girls have normal sexual development, reproductive problems can arise, some of which are menstrual irregularities, early menstruation, and periodically,

The first disorder I am going to discuss is the neurodevelopmental disorder, Down Syndrome. Down Syndrome has always been fascinating to be as to its causes and its effects on people. Down Syndrome is congenital disorder resulting from a chromosome defect. Human’s have 23 pairs of chromosomes giving us a total of 46 chromosomes. When a person has Down Syndrome, they have 2 copies of chromosome 21, as opposed to the normal 1 copy of it. People who have Down Syndrome still have 23 pairs of chromosomes but, with an additional copy of chromosome 21, they have a total of 47 chromosomes. “This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome” (What is Down Syndrome, 2012). People who have from Down Syndrome will display both physical and cognitive symptoms ranging from mild to sever depending on the person. Physical symptoms of people with Down Syndrome can include; low muscle tone, small stature, flattened facial profile, wide hands with short fingers, and an upward slant in eyes. Cognitive symptoms of Down