Fragile X Syndrome Essay

In 1943, two men named Martin and Bell observed and discovered an interesting form of mental retardation. The name was later put into a more sophisticated name known as the Fragile X Syndrome. This disorder or syndrome can be also recognized by several other names such as FRAXA Syndrome, fra(X) Syndrome, FXS, Martin-Bell Syndrome, and more. This syndrome causes mental disabilities. The “X” in the disorder’s name indicates or stands for a chromosome’s shape. A scientist named Herbert Lubs did a test in 1969 on several chromosomes for Fragile X. The syndrome wasn’t fully examined until the 1970’s though. A few scientists however finally discovered the gene that caused Fragile X Syndrome in chromosomes in 1991, which is called the FMR1 gene. The
gene’s full name is the Fragile X Mental Retardation 1 gene. The FMR1 gene is located on the longer arm of a chromosome. The shape of the chromosome affected by the gene looks similar to any other normal chromosome, except one large difference. The bottom portion of the long arm on the chromosome includes a small gap. This is where the fragile site is located.
Fragile X Syndrome may be passed down from parent to offspring or be inherited without even knowing. The syndrome is X-linked dominant, meaning that the mutation in one of two copies of the gene is able to cause the disorder. Women who have the premutation have a greater chance of receiving the FMR1 gene, or they have a greater chance of giving birth to an offspring with the FMR1 gene. Men have more severe symptoms of the Fragile X syndrome than women. Men with the premutation will only pass it to their daughters, but never will pass the syndrome down to their sons. The male with the premuation’s sons will receive a Y chromosome. Y chromosomes do not contain the FMR1 gene, so the sons will not receive the disorder.
Some symptoms or signs of Fragile X Syndrome are seizures, hesitant talking, anxiety, or hyper-like behavior.
There are also some physical features symptoms such as flat feet, large ears, a long face, a noticeable jaw or forehead, scoliosis, a single line on the palm of one hand, a lazy eye, a sunken chest, or more. There are also behavioral, developmental, and muscular symptoms as well. There is no known cure for Fragile X Syndrome as of today. However, treatments such as therapy and medications may help control the disorder. Therapy may help control learning disorders and medications may help treat mood swings or anxiety. Specialists such as pediatricians, medical geneticists, speech therapists, occupational therapists, clinical therapists, physical therapists, and neurologists may or will be able to help with treatments or therapy as well. Fragile X Syndrome may also lead to Autism, another mental condition.
The Fragile X Syndrome is rarer than it is common. The disorder appears in about 1 in 4,000 males and 1 in 8,000 females. There are less than 2,000 cases reported in the United States annually. Fragile X Syndrome mostly affects people from 0-40 years of age. People who are from ages 41 and up are the least likely to inherit or receive this
syndrome.