Fragile X Syndrome Analysis

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.

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

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.

An example of a recessive x-linked disorder is fragile x-syndrome or FXS. Fragile x-syndrome affects a person’s behavior, learning, intellectual, as well as physical characteristics. Fragile x-syndrome is more likely to affect males over females and does not shorten their life expectancy. Males who have FXS can have ADD or ADHD, autism, aggression and other behavioral traits. Men can have physical alterations such as a long face, large ears, and flat feet. Women who have FXS can experience the same behavioral traits but are usually milder in comparison to men. The same is shown through the facial features for women (National Fragile X Foundation,

Fragile X syndrome is among the common inherited cause of intellectual disability and single cause of autism. This is caused by the lengthening of the X chromosome and although both male and female can be affected, males are more prone to be affected than females – with the ratio of 1/4000:1/8000 (1). This is because males have only one X chromosome, while female has two. Females can be a carrier of this gene defect but their other X chromosome would still be able to make the protein, whereas male, only possessing one X chromosome would be more affected. Symptoms of this mutation includes behavioral and learning disabilities, autism disorder, elongated and narrow face (macrocephaly), macroorchidism

They interviewed a family with eleven male members who showed symptoms of mental retardation. After interviewing the affected individuals and looking at the family history, they said the condition caused some portions of the brain to not develop, was sex linked, and heritable. They hypothesized that the cortex was affected because the affected individuals had difficulty with speech. In 1969, Herbert Lubs created a chromosomal test (which was not always accurate) for Fragile X, but it was not broadly used until the late 1970’s. He discovered extra genetic material that extended beyond the long arm of the X chromosome affected the males, but the not females in the family. In 1991 Ben Oostra, David Nelson, and Stephen Warren identified that a mutation in the FMR1 gene causes Fragile X. They named the mutation FRAXA, which causes almost all cases of Fragile X syndrome. The FMR1 DNA Test was created and replaced chromosome testing to determine the presence of Fragile X. This test detects more than 99% of people with Fragile X. No cure for Fragile X has been discovered yet, and there is also no specific

Fragile X is the most common single gene which leads to autism and other intellectual disabilities. Fragile X is transmitted through DNA. Within the DNA, it has been found that the

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

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.

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.

Trisomy X is not inherited, therefore the syndrome is not found on a certain chromosome number. The condition is due to an error. Humans are born with a pair of sex chromosomes-

XXX syndrome is also called triple X syndrome or trisomy 47 or 47. Triple X is a chromosomal abnormality. In this abnormality the female has an extra X chromosome in each of her cell. Normal female will have two X chromosomes which it will receive one from dad and the other one from mom, however a female with this abnormality will have three X chromosomes. The sexual development for these females with the abnormality is normal and they are able to give birth to a baby with no problems. Some of the symptoms are that the female will be tall, but may have a small head which is known as microcephally. She will have speech and language learning disabilities or weak muscle tone such as hypotonia. Female will show sign of puberty more than normal