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
Down syndrome is a disorder that comes with some defects, such as in the face, heart, sight, and hearing, and other health related problems. It also is the most common genetic defect, affecting many babies. Down syndrome is caused when the chromosomes are being divided during meiosis the cell keeps both copies of chromosome #21, which means the person with Down syndrome has an extra copy in every cell in their body. This is a sad genetic disorder that can change a person's life. Even though it is a devastating gene mutation, the people with Down syndrome are some of the most loving of all people.
From society's perspective, Down syndrome children have become a serious complication in the world. Disabled children with special needs like Down syndrome are not given the directed attention needed for appropriate treatment. In 1862, John Langdon Down characterized Down syndrome as a separate form of mental disability but he broadened his research in 1866. By the 20th century, Downs has become the most recognizable form of mental disability in the world because of the physical characteristics that distinguish their disability (Patterson, 137). Some symptoms include a small-flattened face, bowlegs in some cases, and generally, their tongue is too big for their mouth so it usually hangs outside of their mouth as well as other physical characteristics exemplifies a Down syndrome child (Wedro). Down syndrome, Downs or DS, occurs in children who have an "extra copy of chromosome 21." Ninety-five percent of Down syndrome cases are Trisomy 21 (nondisjunction), four percent are translocation, and one percent is mosaicism. There are roughly 400,000 cases of Downs in the United States toda...
Johnson, P. A. (2014). Down syndrome. In L. J. Fundukian (Ed.), The gale encyclopedia of medicine (4th ed.). Retrieved from Gale Science in Context database. (Accession No. DU2601000443)
Down syndrome is a very common disorder now a day’s, but not many know what it actually is. Down syndrome was a topic that was not as common back in that day. “John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly
Children with Down Syndrome have distinct physical characteristics. They are short in stature and have a small, round face with a high flattened ...
Children with Down syndrome are normally smaller, and their physical and mental improvements are slower compared to children who are unaffected.Some of the physical features in children have flattening of the back of the head, slanting of the eyelids, small skin folds at the inner corner of the eyes, depressed nasal bridge, slightly smaller ears, smal...
Roizen, Nancy & Patterson, David. (2003). Down’s syndrome. The Lancet, 361 (9365). Retrieved from http://search.proquest.com/docview/199035382/abstract?accountid=4216
Down syndrome was discovered in the 1800’s by a man named John Langton Down. Down syndrome1 is a condition that occurs in the chromosomes. The syndrome affects the intellectual ability of the person effected, their facial appearance and causes hypotonia2. Children born with this usually experience different types of birth defects. These birth defects can include heart defects and intestine blockage. People with Down syndrome are also at a high risk of developing other medical conditions. Some medical conditions include gastro esophageal reflux3, celiac disease4, hypothyroidism5, and leukemia6. Also some visual and hearing problems can arise. There are three types of Down syndrome.
Intellectual and developmental problems range from mild to moderate and some are healthy. Also problems with thinking and learning are common. Poor judgment, short attention span, impulsive behavior, and delayed language and speech development are all behavioral problem. Others have severe health problems like serious heart defects. Not all children with Down syndrome have the same features. Some common features are: flattened facial features, small head, short neck, poor muscle tone, short height, etc. Breastfeeding from tongue and mouth abnormalities can be difficult. Conductive hearing loss due to ear abnormalities; 66-89% of Down syndrome people have some level of hearing loss in at least one ear. About 3-13% of them have seizures. Also 40 to 50% of children with Down syndrome have congenital heart defects in the United States (“association for children”). Infants with Down syndrome maybe average size but grow slowly and remain shorter than other children the same
Down syndrome symptoms vary from person to person, and there are different types of symptoms. There are Physical symptoms which include: Decreased or poor muscle tone, Short neck, with excess skin at the back of the neck, Small head, ears, and mouth. And there are Intellectual and Developmental Symptoms which is cognitive damage, problems with thinking and learning is common in people that have Down syndrome. Other cognitive problems may include short attention span, poor judgment, impulsive behavior and slow learning.
If a woman is pregnant and wants to know if her baby will have Down Syndrome she can have 2 test to find out whether her baby will have Down Syndrome or not. The first test she can have is a screening test. A screening test does not give a definite answer whether the baby will have this disorder. The second test the mother can have is a diagnostic test. This test is done
Down Syndrome does not only affect the overall life quality of someone with this diesease, but can increase or decrease the chances of that individual from being diagnosed with cancer. Down syndrome, often referred to as DS, is a disease that is has an extra chromosome 21 or HSA21 gene, which causes the number one intellectual disability that is world wide. The child is born with this condition,but DS can be detected before the child is born. Not only does Down Syndrome cause intellectual disabilities,but they can begin physical and medical disabilities as well.
Down syndrome is a common birth defect that is genetic. It is a chromosomal disorder caused by an error in cell division that results in an extra 21st chromosome. Most children born with Down syndrome have some level of mental retardation.
“The test is a great test, but it needs to be understood before it can be used effectively. Said Mary Norton (Marcus A.3).”Blood tests showing the fetus has downsyndrome can lead so parents or soon to be parents to end the pregnancy due to lack of knowledge of the capabilities and responsibilities to caring for a downsyndrome child. This test is a cell- free DNA test, it prevents women from needing invasive procedures, other genetic tests have risks of miscarriage. “Data tests from 1996 to 2010 had many researchers looking at the tests in a different perspective
The life of a child with Down syndrome is different from the life of a child without Down syndrome. Down syndrome is “a genetic chromosome 21 disorder causing developmental and intellectual delays”. (4) If you think about it, there are many people that have Down syndrome. The complications of living with Down syndrome can range in severity to mild to extreme and may include thyroid disease which is any dysfunction of the butterfly-shaped gland at the base of the neck. Heart defects which is an abnormality in the heart that develops before birth, obesity, seizures and many more.(3) There are two types of symptoms, behavioral and physical. Some behavioral symptoms are poor judgment, impulsiveness, delayed speech and language development.