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Genetic Disorders And Down Syndrome Essay

1177 words - 5 pages

A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes” (Letsou). Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.
Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According to The Fragile X Association, Fragile X Syndrome (FXS) is caused by the expansion or lengthening of the FMR1 gene on the X chromosome, known as a gene mutation. Fragile X occurs more in males than females. “Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.” The X chromosome is one of two sex determining chromosomes. When the gene lengthens it switches off production of a protein that is involved in brain development and other functions.
There are different characteristics with individuals who have Fragile X. For example, they have narrow faces, large ears, a prominent jaw and forehead. Most people with Fragile X can get very angry and they can have bad anxiety. Also, they are usually hyperactive and they tend to be very fidgety they do not seem to stay still they are always moving and doing something. Occasionally, it can be very hard to understand what an individual with Fragile X is saying. They tend to talk to fast and jumble their words. To clearly understand the individual one may ask them to repeat what they previously said and say it slowly. “About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction.” Features such as flapping arms, sucking, rubbing clothes, and licking. Unlike many other syndromes those affected by Fragile X are expected to have an average life span and have fewer health problems.
Down syndrome, also known as trisomy 21, or trisomy G is one syndrome that has many characteristics. In 1866 “English doctor, John Langdon Down published a description of the condition” (Downs Syndrome Association). According to Genetics Home Reference, Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone in infancy. Down syndrome is caused by an extra copy of the 21st chromosome. Unlike Fragile X syndrome, Down syndrome is most commonly detected by the appearance of the individual. Approximately 15% of people with Down syndrome “have an underactive thyroid gland. The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Some of the problems these individuals...

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