Fragile X Syndrome Research Paper

Around 1 in 400 to 6000 females in the world are also born with the full mutation and will show features of the disease. On the other hand, roughly 1 in 800 men and 1 in 260 women in the world are carries of the Fragile X pre-mutation. Furthermore, a recent 2004 analysis indicates that the quantity could be as high as 1 in 130 women, which shows that there may be a rapid increase of carriers of the disease (The National Fragile X Foundation, 2011).

Did you know that about 1 in 4,000 males and 1 in 8,000 females are affected by Fragile X Syndrome(CDC)? Fragile X Syndrome affects does not only affect the young or the old but it will affect anyone of any age. Children who have Fragile X Syndrome can learn many different ways of communicating with others. Also there are many ways to help a Fragile X children become more socially active. There are many ways to help Fragile X Syndrome children to communicate.

Fragile X Syndrome, or FXS, is the most commonly inherited form of mental problems and disabilities globally.

Fragile X syndrome (FXS), often referred to as Martin-Bell syndrome, is an inherited genetic condition, associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism, especially in boys. In addition to intellectual disability, there are distinguishing physical features as well, including elongated face, protruding ears and low muscle tone

The Fragile X Syndrome is a mutation in the gene Fragile X. This usually means that the X chromosome of the child appears to be pinched when looked at under a microscope (Akshoomoff, Pierce, & Courchesne, 2002). This simple pinched mutation causes the child to not develop how you would expect the chromosome to normally develop. Of course when something does not develop correctly there will be complications and issues. Researchers have noticed that many children with Fragile X Syndrome and autism seem to have similar symptoms, especially when it comes to their social development. This is why they originally thought that Fragile X Syndrome and autism were connected. This is why sometimes most children are only thought to have ASD or Fragile X

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

Fragile X Syndrome (FXS) also known as , the Martin-Bell, or the marker x syndrome. This genetic disorder is an autosomal dominant. It is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Majority of the time males are in more risk than females to getting this genetic disorder. For more proof of this fact statistics say that 1 in 4,000 males and 1 in 8,000 females tend get this disorder.This disorder is caused by the expansion of lengthening of FMR1 gene on the X chromosome. When it lengthens it turns off the production of a protein that is involved in brain development and other functions. This Fragile X gene can be passed down through generation.

As stated before , Fragile X Syndrome is Inherited in a dominant X-linked sequence. The disease is caused by the pattern

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.

Males are more prominent to have more problems, instead of females. About one in four thousand males and one in females, are diagnosed with fragile X. Any nationality can be effected from fragile X. Fragile X is inherited through genes, that we inherit from our parents. People can be tested, to find out if they are a carrier of this gene. Special services and support groups are available for anyone having fragile X. Most of the time people can be connected to these providers and support groups through their local health care provider. Most of all cases of fragile X are because, of an altercation in their FMR1 gene. People with fragile X, their genes in this area are usually repeated more than two hundred times, which causes the fragile X to be prominent in their

Other neurodevelopmental disorders which are less common are Fragile X syndrome and Williams’s syndrome. William’s syndrome comes into existence because of deletions/missing of small genetic material from chromosome 7.

The genetic mutation Fragile X syndrome occurs on a segment of human DNA. Because the disease was first studied in 1943 by British physician James Purdon Martin and British human geneticist named Julia Bell, Fragile X is also referred to as Martin-Bell syndrome. Though it was not until 1969 that scientist Herbert Lubs discovered what exactly causes Fragile X syndrome. He explained that those who obtain the mutation will possess an X chromosome with an unusual gap. The gap located on the chromosome is called a ‘fragile site,’ which is where the name originates from. Fragile X is genetically passed down to offspring, so researchers are striving to improve the symptoms in hopes that they can create a better future for the victims.

Fragile X is said to be “the most common cause of inherited intellectual disability”(CDC, 2016) and generally is more prevalent in men than it is in women. This paper will look at the genetic inheritance of Fragile X syndrome but also some general information regarding the genetic disorder. It will also include the methods by which genetic diseases are diagnosed and how genetic counselling is used to aid patients.

Carriers of the fragile X premutation (55-200 CGG repeats) are not rare in the general population. It is estimated that 1:130-250 females and 1:800 males carry the premutation state. Female carriers of the premutation can transmit either their normal or premutation allele to their children. However, in the case of Fragile X syndrome, anticipation can occur upon maternal transmission as the premutation passes from one generation to the next one. This risk of expansion of the premutation to a full mutation allele rises as the CGG repeat number rises as well. Individual carriers of a premutation allele have consequently increased amounts of FMR1 mRNA but on the contrary, moderately lower FMRP. The fragile X premutation can give rise to two clinical

Within the impairment of social interaction, there are many different characteristics that could be a part of this. Such characteristics include: the desire of isolation, not understanding and knowing how to work with others in an appropriate manner, being socially awkward, and having a “limited understanding of the two way nature of relationships” (Worth, 2005).