Genetic Disorders and Down Syndrome Essay

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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…show more content…
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 may have are heart defects, infections, hypothyroidism, blood disorders, vision problems, Alzheimer’s, and a few other problems” (Associated Conditions). However, not every individual that have Down syndrome are faced with these health problems. In most cases, Down syndrome babies are born to women who are much older when they give birth. People with Down
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