Down Syndrome Essay

Topics: Down syndrome, Chromosome, Genetics Pages: 4 (1496 words) Published: October 23, 2012
Down Syndrome is a chromosomal condition related to chromosome 21. It affects 1 in 800 to 1 in 1000 born infants. People who have Down Syndrome have learning difficulties, mental retardation, a different facial appearance, and poor muscle tone (hypotonia) in infancy. Individuals with Down Syndrome also have an increased risk for having heart defects, digestive problems such as “gastroesophageal reflux or celiac disease”, and hearing loss. Some people who have Down Syndrome have “low activity of the thyroid gland (hypothyroidism)” - an organ in the lower neck that produces hormones. Down Syndrome can be diagnosed in infancy based on the characteristic medical findings. When Down Syndrome is assumed in a person, a genetic test called a “chromosome analysis” is performed on a blood or skin sample to look for an extra chromosome 21 (trisomy 21). Trisomy 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies. Having an extra number 21 genetic material interrupts the normal course of development, causing the characteristic medical features of Down Syndrome. Some people who have Down Syndrome have an extra number 21 chromosome in only some of their body's cells. This type of Down Syndrome is called Mosaic Down syndrome. A small number of individuals have Down Syndrome because part of chromosome 21 becomes attached to another chromosome before or at the time of the start. These beings have two copies of chromosome 21, and extra substance from chromosome 21 that is attached to another chromosome. The chromosomes of parents of a child with Down Syndrome caused by a “translocation” are studied to see whether the translocation was inherited. Treatment for Down Syndrome is based on the person's physical problems and academic challenges. Many babies who have Down Syndrome do not have good muscle quality, which makes it harder for them to roll over and walk. Physical therapy can help with these problems. “About 40 - 60 percent of...
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