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The Cause And Effects Of Down Syndrome

1246 words - 5 pages

Some people wonder what Down syndrome is. How it is caused, and how it is treated. The causes and effects of Down syndrome is when there is an extra 21St chromosome. The effects include some birth defects and health problems. The physical features are different from someone without Down syndrome.
What is Down syndrome? It is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome (Crosta). Down syndrome causes problems with a person’s physical growth that varies by how bad it is. This disease can develop either before or after a child is born. Less than 1,000 pregnancies for mothers less than 30 years of age result in a baby with Down syndrome. ...view middle of the document...

The remaining 5% of Down syndrome cases are due to conditions called mosaicism and translocation. Mosaic Down syndrome results when some cells in the body are normal while others have Trisomy 21.
How is Down syndrome diagnosed? Diagnostic tests are 99% accurate to tell whether the baby will have Down syndrome and other birth defects. Diagnostic tests include, Chorionic Villus sampling at 8-12 weeks, Amniocentesis at 15-20 weeks, Percutaneous umbilical blood sampling after 20 weeks (Crosta). Another way to diagnose Down syndrome is a screening test. Screening tests do not give a definite answer if the baby will have Down syndrome or not. Screening tests include Nuchal translency at 11 to 14 weeks, triple screen or quadruple screen at 15-18 weeks, integrated screen, and genetic ultrasound at 18-20 weeks (Crosta). Down syndrome can be diagnosed after the baby is born by looking at blood and tissue samples, and the baby’s physical characteristics. It is also standard for pregnant woman older than 30 or 35 to receive genetic screens because the risk of having a child with Down syndrome is increased as woman age (Crosta). A few families have prenatal exams that tell the possible problems. Other families know they have a higher chance of having a child with Down syndrome.
What are the characteristics of people with Down syndrome? People with Down syndrome have a lower risk of hardening of the arteries, diabetic retinopathy, and most kinds of cancer (Crosta). Those with Down syndrome have a higher risk for congenital heart defects. They also might have a higher risk for respiratory and hearing problems along with Alzheimer’s disease, childhood Leukemia, epilepsy, and Thyroid problems. Although many with the condition experience development al delays, it is not uncommon for those with Down syndrome to attend school and become active, working members in the community (Crosta). Other characteristics of a person with Down syndrome are that they have a large space in between the big toe and the second toe. They also have a single flexion furrow of the fifth finger. Some people with Down syndrome might have a speech delay. Children with Down syndrome may not walk until they are four years old. Some children will walk at two years old. Down syndrome people can have problems with their general health that might cause problems with organs, or their body. The physical characteristics of a person with Down syndrome are that their eyes have an upward slant, oblique fissures, skin folds on inner corners, and white spot on the iris. They also have a low muscle tone, small structure...

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