Down syndrome - Research Paper Example

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Charles Darwin, a famous evolutionist, Arthur Miller, a famous American playright, Eva Longoria, a well-known actress and Jamie Foxx, a hip-hop artist. All of them come from different backgrounds and fields of interest but there is one thing that ties them all together: Down syndrome…
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Down syndrome Research Paper
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Download file to see previous pages Currently, there are more than 400,000 people living with Down syndrome in the United States alone. An estimated 3-4 million people are living with Down syndrome worldwide. As global healthcare improves, the population of people with Down syndrome may double over the next 30 years (Down Syndrome Education International, 2009).

Down syndrome was first described by John Langdon Down, an English physician, when he recognized the cluster of traits common in people and published his findings in 1866. In 1959 Dr. Jeremy Lejeune discovered the fact that all people with this syndrome had an extra 21st chromosome. Down syndrome is defined medically as a genetic condition in which a person has exhibits an extra chromosome, having 37 instead of the normal 36 chromosomes. Chromosomes are rod-like structures located inside the nucleus of our cells which carry all the genetic information responsible for all our inherited characteristics. Normally, each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when some or all of a person's cells have an extra full or partial copy of chromosome 21 (National Down Syndrome Society, 2009). There are three types of Down syndrome: nondisjunction, translocation, and mosaicism. The most common of these three, occuring in about 95% of all
cases is nondisjuntion, often referred to as Trisomy 21. ...
This extra chromosome is then found in every cell in the body causing the characteristics of Down syndrome. Translocation occurs in 3-4% of cases and with this type of error, a part of chromosome 21 breaks off and attaches itself to another chromosome. The most common chromosome being attached to is chromosome 14. Similar to nondisjunction, all the cells in the body have an extra piece of the 21st chromosome. Translocation is associated with one parent carrying chromosomal material that is unusually arranged, thereby, the only means of inheriting Down Syndrome. According to (2007), if the father is the carrier, the risk is about 3 percent and if the mother is the carrier, the risk is about 12 percent. The third and least common type is mosaicism, which occurs in about 1-2% of all people with Down syndrome and the error in meiosis occurs after fertilization. This results in some fetal cells having 46 chromosomes and some with 47 chromosomes. The extent of physical problems will depend on the ratio of cells with 46 chromosomes to those with 47 chromosomes (, 2006). The third and least common type is mosaicism, which occurs in about 1-2% in Down syndrome cases.
As mentioned earlier, the severity of signs and symptoms depend on the extent and type of mutation in the chromosomes of the person afllicted with Down syndrome. However, according to the Lewis & Kimsre (2009), common physical signs include: decreased muscle tone at birth, excessive skin at the nape of the neck, flattened nose, separated sutures (joints between the bones of the skull), single crease in the palm of the hand (Simean crease), small ears, small mouth, upward slanting eyes, wide, short hands with short ...Download file to see next pagesRead More
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