DOWN SYNDROME: A defect of the 21 st chromosome By: Jacquelene Dent
Down Syndrome a.k.a Trisonomy 21 Top: Normal set of Chromosomes. Bottom: Down Syndrome Chromosomes Down Syndrome, also known as Trisonomy 21, is a disorder that occurs when an extra chromosome is present on the 21 st chromosome. This takes place when, during meiosis, an egg with 22 chromosomes and a cell with 24 chromosomes are made. If the egg containing 24 chromosomes combines with a sperm containing 23 chromosomes, the new cell will have 47 chromosomes. If the extra chromosome is in the 21 st chromosome, then Down Syndrome has occurred.
How can you tell if someone has it? <ul><li>The characteristics of a person with Down Syndrome are…. </li></ul><ul><li>Small mouth </li></ul><ul><li>Small ears </li></ul><ul><li>Flattened nose </li></ul><ul><li>Upward slanting eyes </li></ul><ul><li>White spots on iris </li></ul><ul><li>Wide short hands with short fingers </li></ul><ul><li>Single crease in palm of hand </li></ul><ul><li>Excessive skin at nape of neck </li></ul><ul><li>Decreased muscle tone </li></ul><ul><li>Separated joints between bones in the skull </li></ul>
Those With Down Syndrome may Experience…. <ul><li>Sleep apnea </li></ul><ul><li>Hearing loss </li></ul><ul><li>Eye problems </li></ul><ul><li>Heart problems </li></ul><ul><li>Frequent ear infections </li></ul><ul><li>Gastrointestinal blockage </li></ul><ul><li>Increased risk for other infections </li></ul><ul><li>Weakness of back bones at top neck </li></ul><ul><li>Compression injury of the spinal cord </li></ul>
Down Syndrome can lead to… <ul><li>Most people who have Down Syndrome have heart problems which can lead to an early death. Those with Down Syndrome also have an increased risk of leukemia and dementia. They also have different levels of mental retardation, which is different from person to person. </li></ul>
Are there any treatments to help Down Syndrome patients? <ul><li>There isn’t any treatment available to cure Down Syndrome. However, those with Down Syndrome need to be screened regularly for eye problems, hearing loss, and thyroid disease. Physical and speech therapy is also needed to improve language skills and teach movement. Surgery may be needed to correct heart defects and gastrointestinal blockage. </li></ul>
A day in the life of someone with Down Syndrome <ul><li>Moria Baker was born with Down Syndrome in 1980. As a young child, she had to undergo four heart surgeries to correct her heart defects and had to be hospitalized several times. She has to take a blood thinner for the rest of her life and have her pacemaker replaced every ten years. However, according to her father, she turned out to be a normal teenager that liked to hang out with friends and listen to music. </li></ul>
What is being done to help future Down Syndrome patients? <ul><li>Although there is not cure for Down Syndrome, things are being done to help. The March of Dimes is looking for the reason why problems happen in chromosome division. They do this in hope of finding a cure for Down Syndrome and other diseases caused by chromosome division problems. Researchers are also developing better language intervention programs to help Down Syndrome patients communicate easier. </li></ul>
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