According to Genetics Home Reference, Down syndrome is a chromosomal condition that is associated w...
The mother will need to be evaluated to make sure the baby will be fine before birth (Health Line). During the first trimester, one way to determine if the baby will have Down syndrome is through test (Health Line).”The tests have a higher false- positive rate than the test done later in pregnancy” (Health Line). Ultrasound and blood work can detect if the baby will be born with Down syndrome (Health Line). In the second trimester, having an ultrasound done can tell rather the baby will grow properly. Also, when having the ultrasound the mother can see if the spinal cord is growing correctly (Health Line). “The test is typically done around 15 and 20 weeks old” (Health Line). Most mothers rather not take the test due to the risk of miscarriage. “There are three different tests that can be done an Amniocentesis is one test, the doctor will take amniotic fluid to examine the number of chromosomes the babies has” (Health Line). “Chronic villus sampling the procedure the doctor will take cells from the placenta to analyze fetal chromosomes” (Health Line). The test can origin miscarriages; but only by one percent most mothers do not take the test due to the risk to the fetus (Health
Down syndrome takes its name from Dr. Langdon Down. He was the first person to describe the syndrome in 1866. The earliest recorded incident of someone having Down syndrome dates back to an altar piece painted in a church in Aachen, Germany in 1504. Although the syndrome is named after Dr Langdon Down, he did not understand the condition, as we know it today. The syndrome was referred to as having mongolism. This was because people who have Down syndrome have similar physical characteristics to those people of oriental heritage.
According to Gould and Dyer (2011), characteristics in people with Down syndrome are typically a small head with a flat facial profile, eyes are slanted and the irises contain a Brushfield spots, mouth tends to hand open, large tongue, and high-arched palate. The person can also have small and a single palmar crease, hypotonic muscles, joints are loose, cervical abnormalities, short stature, delay in developmental stages, sexual development is delayed or incomplete, and children are at risk for other problems such as visual issues, hearing problems, obstructions in the digestive tract, celiac diseas...
Down syndrome is the most common and readily identifiable chromosomal condition associated with mental retardation. It is caused by a chromosomal abnormality: for some unexplained reason, an accident in cell development results in 47 instead of the usual 46 chromosomes. This extra chromosome changes the orderly development of the body and brain. In most cases, the diagnosis of Down syndrome is made according to results from a chromosome test administered shortly after birth.
Down syndrome is a genetic condition which can cause intellectual and developmental disabilities. Persons affected with Down syndrome have the common will have an additional chromosome; instead of 46, they have 47 chromosomes. Down syndrome occurs in about one in every 733 births, making it one of the most common birth defect (Cadsa). The physical traits shared by Down syndrome children and adults make this genetic defect easily recognizable. As described on the website, The Arc (2010), these physical traits may include flattening of the back of the head, eyelids that slant upwards and outwards, small skin that folds at the inner corner of the eyes, flattened noses, small ears and a small mouth which will make the tongue seem large. Most will have decreased muscle tone, loose ligaments, small hands and feet, and overall, a smaller statue. There are two features that are not so recognizable and will affect fifty percent of those with Down syndrome; one line across the palm, and a big space between the first and second toes. Like most exceptionalities, not every child will have all of the physical characteristics described and may only show evidence of a few, yet others will exhibit the more severe attributes of Down syndrome. Physically and intellectually, children and adults with Down syndrome will have a broad spectrum of functionality. Typically, thos...
Down syndrome is caused because of an abnormal characteristic which means there is an extra copy of genetic material on all or just part of chromosome 21. In our body, it contains genes that are located in the cell’s nucleus. Normally a cell has a total of 46 chromosomes (23 from the mother and 23 from the father), but in the case of Down syndrome the baby will have a total of 47 chromosomes instead of 46. This is because of an extra chromosome 21; this is caused by a cell division called nondisjunction which is when a sperm or egg cell has another copy of the chromosome 21 either before or at conception. This disorder means that the baby born or diagnosed with Down’s syndrome will have impairments in their mental ability and their physical growth.
Down syndrome is found in one in every 691 babies in the United States! (Global Down Syndrome Para 12). The abnormality in physical and mental traits of this genetic disease has made it moderately difficult for those who are diagnosed to live. Their lifestyle and their parents are more complicated than a regular human being because of the extra attention towards health and education needed. But with extensive medical care and proper techniques families are able to get through the illness.
Down syndrome is named after a British doctor, Langdon Down, who first described the condition in 1887. Langdon did not have down syndrome but wrote a paper entitled “Observations on the Ethnic Classifications of Idiots.” In his paper Langdon referred to down syndrome as the “Mongolian type of Idiot,” which resulted in people with down syndrome being called “Monogoloids.” It wasn’t until more than 60 years later, in 1959, that an extra 21 chromosome was identified as the cause by Dr. Jerome Lejune.
They used to be called "Mongoloids," an ethnic insult coined by John Langdon Down, an English physician during the nineteenth century. But now they are known as people, individuals with a condition known as Down syndrome. (3). It wasn't until the 1960s that Jerome Lejeune and Patricia Jacobs discovered the cause of Down syndrome (also called trisomy 21). But with technological advancements within the scientific community, more and more information has been gathered about the condition that affects about one in every one thousand children born around the world. (4).
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.
Down syndrome is a different disorder, and it affects all types of people, no matter what color or gender. Not only affecting the mental aspects of an individual, but also their physical appearance. Everyday activities involve a struggle and challenge to not only the one diagnosed, but with the ones involved.
John Langdon Down officially classified Down syndrome in 1866. Langdon Down grew up in Cornwall, England and worked in his family business until he entered medical school when he was eighteen. After obtaining his degree, he was appointed the medical superintendent of the Royal Earlswood Asylum for Idiots. He spent his time there perfecting his description of the “idiots” that lived in this Asylum. Because their physical appearance reminded him of people from Mongolia, he called the disorder “Mongolian idiocy”. When Langdon Down was studying these patients, he described them as being “humorous” and having “a considerable power of imitation” (Mark Leach). He also stated that, although “the speech [was] thick and indistinct”, they were “able to speak” (Mark Leach). Down syndrome wasn’t actually called Down syndrome until 1961 when a group of geneticists, eager to rename the disorder, looked back on his work and renamed Mongolian idiocy after John Langdon Down.