Down Syndrome

Down syndrome is a birth defect caused by a genetic disorder that affects 350,000 people in the United States. It is caused by abnormalities in the genes and is not inherited, meaning that parents do not pass this onto their children. Genetics is the study of heredity or how certain traits are passed from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of your body and each one of us has more than 100 trillion cells. Our genes are located in chromosomes. Each cell in your body contains 46 chromosomes or 23 pairs. In a person with Down syndrome, there are 47 chromosomes. In 1956, a French researcher named Jerome Lejeune used a new powerful microscope to view human strands of DNA. DNA is what holds an individual person’s genes. He studied these DNA strands and determined that there is an extra strand in chromosome 21, which is now called “Trisomy 21” tri meaning three and somy for the word chromosome – meaning three chromosomes. No one knows exactly what causes Down syndrome aside from it being genetic.

Many years ago, this condition was known as “mongolism” or people that had it were called “mongolian idiots”. But in later years, Asian people as well as parents of these children protested these terms and in the 1960’s the condition became known as Down syndrome in honor of the English doctor John Langdon Down. Who, in 1866, studied people with mental retardation and noted distinct physical features in them. Some of the physical features associated with Down syndrome are low muscle tone, many newborns appear as floppy and not toned, they have flat facial features especially a small nose with a flattened nasal bridge. Their eyes are slightly slanted with small skin

folds at the inner corner. The have a short neck, small abnormal shaped ears, and an enlarged tongue that often tends to protrude making speech difficult to understand.

Many people with Down syndrome suffer from a variety of health problems. The most common and significant symptom is mental retardation, which ranges from mild to moderate. People with Down syndrome suffer from congenital heart defects, which affect approximately 40-50% of these people. Their poor muscle tone makes much physical activity difficult. There are many hormonal problems, mainly thyroid disease. People with Down syndrome suffer from circulatory problems, respiratory ailments, ...

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...the placenta is removed and the cells are tested under a microscope for chromosomal abnormalities. The last test is Amniocentesis, which is where a sample of the amniotic fluid is withdrawn from the womb. This procedure is done during the 14th to 18th week of pregnancy. This is the most reliable and accurate test. It is 99.8% reliable in testing for Down syndrome. There is another blood test available called Percutaneous Umbilical Blood Sampling (PUBS).

The fact of the matter is no matter how different or unusual these people appear, people afflicted with Down syndrome should be treated with respect and dignity just like you and me. These people are productive individuals and have many things to offer. Just because they are different doesn’t mean they aren’t valuable to us. We can learn patience and acceptance from them and until there is a cure, our acceptance and a positive attitude will help us all to move forward.

Works Cited

Diseases and Disorders - Down Syndrome, Christina M. Girod, San Diego, CA, 2001

Down Syndrome, Salvatore Tocci, Grolier Publishing Company, Inc., 2000

www.aolsvc.health.webmd.aol.com/content/article/1680.54172

www.my.webmd.com