Fsx Syndrome Research Paper

Boys are two times more likely than girls to receive such a diagnosis. (King, 2013).

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

This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two

Almost a third of people with FTD have a family history of dementia. However, only about 10-15% of cases have familial FTD, in which a gene mutation is passed on that causes the

Approximately one-third of the females with Fragile X Syndrome have a substantial learning disability, the other two-thirds have mild to moderate intellectual disabilities. This two-thirds may also experience issues related to their mental/emotional health as well as social and/or general anxiety disorders. Although rare, there are some females whose FMR1 Gene, which is the gene responsible for causing FXS, fully mutates; thus, eliminating any apparent signs of Fragile X Syndrome. These females usually remain undiagnosed until another family member is diagnosed with the syndrome.

infants are born weighing less the average newborn and are shorter in length. The central nervous

Fragile X Syndrome effects people of all ages from birth till death, in many different ways. Some people with the syndrome will show signs and symptoms but others may show none. Females often will not show signs or symptoms and the only way you can tell is through testing, but on

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,

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

Fragile X Syndrome (FXS) is a trinucleotide repeat expansion disorder where triple expansion is preventing expansion of the FMR1 gene. (Bagni, et al., 2012; “Fragile X syndrome”, 2017).” Regarding this, Jasaseelan and Tenebaum state that Fragile X syndrome was the first disorder found to relate to RNA regulation to

It cannot be prevented it is inherited. If mom has permutation then she has a 50% chance of passing the abnormal gene to each of her children, a father with permutation will pass the abnormal gene to all of his daughters but not his sons because they do not receive the X chromosomes from dad. Fragile X Syndrome is caused by a gene mutation. The expansion or lengthening of the FMR1 gene on the X chromosome is what causes this. When this gene is lengthened it cuts off a production of protein that is involved in brain development and other functions. Symptoms of FXS can be different for boys and girls. Boys with fragile X syndrome will have moderate mental retardation. They will have physical facial appearances with a large head size, a long face, prominent forehead and chin, and protruding ears.

The FMR1 (fragile x mental retardation 1) gene makes protein called FMRP (fragile x retardation protein) which is needed for normal brain development. These genes are found in Chromosomes. Males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). In the X chromosome the FMR1 gene is found, both of the genes and chromosomes have

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 XXY syndrome, most commonly known as Klinefelter syndrome (KS), only affects males of all ages. This syndrome occurs when there is a random genetic error after conception and is not curable, however treatment can help.All females have XX chromosome and all males have XY chromosomes. Unlike the normal XY type that all males have, males affected have an additional X chromosome which results into many symptoms such as impaired spermatogenesis, low testosterone, and male hypogonadism. Since Klinefelter syndrome is related to the sex chromosomes of males, it is a sex link trait.