Topics: Down syndrome, Chromosomal translocation, Chromosome Pages: 4 (1033 words) Published: May 5, 2013
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Down Syndrome
RSM 226
Caitlyn White

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1. Description and definition of disability
Down Syndrome is defined as “…a congenital condition accompanied by moderate to severe intellectual disabilities and caused by a chromosomal aberrancy” (Pomeroy and Lee 288-289). This condition occurs when someone has 47 chromosomes instead of 46. Down Syndrome is known as the most common autosomal abnormality today. 2. Demographics and characteristics of disability

Although Down Syndrome is known to be caused by having an extra chromosome, there is no known cause for why this occurs. The characteristics of individuals with Down Syndrome are very similar throughout this population. The average IQ is usually between 35-50, which is classified as having moderate to severe intellectual disabilities. The most common physical signs are upward slanting eyes (also called almond shaped) and a single crease in the palm of the hand. Other signs are decreased muscle tone, flattened nose, excess skin at the nape of the neck, small mouth, and small ears. These individuals also are known for being extremely flexible. Less noticeable symptoms are the separated joints between the bones of the skull. It is also very common for these individuals to have “Brushfield spots”. These are white or gray spots that are clearly visible on the iris. (Down syndrome). A very common health risk associated with Down syndrome is Congenital heart disease. 3. Etiology, incidence, and prevalence of disability in US

As mentioned earlier, Down Syndrome is caused because of chromosomal defect. This abnormality is most often caused by Trisomy-21. This is the occurrence of three copies of the 21st chromosome. This error in cell division is what causes these individuals White 3

to have 47 chromosomes instead of 46. “CDC estimates that each year about 6,000 babies in the United States are born with Down syndrome. In other words, about 1 of every 691 babies born in the United States each...
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