The Discovery Of Down Syndrome

Down Syndrome, also known as trisomy 21, is a genetic disorder in which a baby is born with an extra chromosome. A baby is usually identified at birth through observation of a set of common physical characteristics. They include having slanted eyes, a pushed in face, and “Brushfield spots” [white/gray spots that appear in the iris of people with down syndrome]. In the 1930’s down syndrome was not treated very well, however many changes in the medical field has led to a better treatment of those who have this illness.

Did you know that close to 6,000 babies are born with Down syndrome every year in the United States? The most common type of chromosomal condition is Down syndrome and there are a few different types of this condition, along with, several different traits that are displayed with this condition. I have always been interested in the topic of Down syndrome and thought it was a great idea to study more about it for my speech. First, I will tell you about what Down syndrome is and who discovered it. Second, I will talk to you about some symptoms and characteristics of this chromosome disorder. Third, I will discuss the 3 different types of this condition, and lastly, how they diagnose Down syndrome prenatally.

A person with downs syndrome has extra chromosome. The defect usually involves the twenty first chromosome. With this chromosome defect you do not develop like the average human being. With Down syndrome you have a short body stature and your face has a very broad profile, the most noticeable way to tell if someone has Down syndrome is their ears and their eyes are aligned differently than someone who doesn’t have downs syndrome. When you are growing up with Down’s syndrome your speech develops much slower and it is much harder to annunciate your words. some over time can develop great speech and some

. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the

Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).

Babies are born with poor muscle tone causing weak muscles and making it harder for them to develop motor skills such as using their arms and legs. It is harder for them to grasp objects, crawl, and walk. Children with Down syndrome have difficulty with their cognitive (thinking) abilities, problem solving, memory retention, social, language, and motor skills. This is one reason why people with Down syndrome become frustrated very easily.

The aetiology of Downs syndrome which means the cause of a specific disease (Mcferran, 2014). Suggests that when one of the chromosomes in reproduction do not separate properly this is when Down’s Syndrome is caused (Steven, 2005). This extra chromosome causes physical developmental defects this causes reduced muscle tone, a small mouth with a projecting tongue and eyes that slant downwards and upwards and causing the back of their head to be flat. Many babies born with Down's Syndrome are diagnosed with the condition after birth and are likely to have many physical defects for example they may have reduced muscle tone, eyes that slant upwards and outwards, a small mouth with a protruding tongue and a flat back of the head. (Hartley, 2015). Down Syndrome patients can also be afflicted with other conditions, including heart disease, Alzheimer’s disease, and leukemia (WHO, 2010). This could effect children and adults through out their life also effecting their physical and mental health.

This means that babies with down syndrome have an extra chromosome, chromosome 47. Some symptoms of the disorder is physical features such as, flat facial profile, upward slant to eyes, small ears, protruding tongue, and your child will have low muscle tone. Other symptoms include, problems with hearing and vision, being cross eyed, having breathing problems, taking longer than normal to reach childhood milestones and take care of themselves, mild to moderate learning impairment, and growing at a slower rate.

Down syndrome (known as Trisomy 21) is a genetic disorder caused when cell division results in extra genetic material from chromosome 21. This genetic disorder occurs in about 1 of 800 live births. Down syndrome was first characterized a separate form of mental disability by John Langdon Down in 1862. By the 20th century the disability had become the most recognizable form of mental disability. These individuals have gone through a lot. In ancient times, many infants with this disability were killed or abandoned. The people with Down syndrome used to be called Mongolian idiots and the syndrome was called mongolism. This comes from the people thinking that Down syndrome individuals resembled Mongolians. It doesn’t only affect the individual

Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters of development and causes the characteristics associated with Down syndrome. The primary purposes of this article are to: establish the origin of the term Down syndrome; determine the possible causes of Down syndrome; Likelihood of having a child with Down syndrome; and treatments for humans diagnosed with Down syndrome.

spread further apart, and are super flexible. This disorder varies in several different ways; it

Down syndrome is believed to have been around for many centuries. Down syndrome has been depicted in several ancient artifacts and paintings, including the 1515 painting “The Adoration of the Christ Child” by Jan Joest of Kalkar. It was not until nearly 350 years later that Down Syndrome became a recognized as a distinctly separate condition. An English physician, John Langdon Down began researching the characteristics of this condition. In 1866, Down published scholarly work that accurately described an affected person. Down named this condition “Mongolism”. Down’s work earned him the title “Father” of this syndrome. Nearly 100 years passed before more research on Mongolism was conducted. In 1959, French Pediatrician and Geneticist Jerome Lejeune determined that Mongolism is a chromosomal abnormality where an individual has 47 chromosomes instead of 46. In 1970, the term “Down Syndrome” became the accepted term for the condition that John Langdon Down discovered. It was some time later that it was discovered the characteristics of Down Syndrome arise from an extra copy of the 21st chromosome. In the year 2000 a group of international scientists worked together to catalogue the genes on chromosome 21. There were approximately 329 genes successfully identified. This discovery has opened many doors and created many advances in the study of Down Syndrome. (What is Down Syndrome?, 2017)

Down syndrome is a genetic defect attributed to an abnormality of the human chromosome 21. The National Down Syndrome Society (NDSS), a national advocate organization for the value, acceptance and inclusion of people with Down syndrome, notes that modern research has successfully identified three types of Down syndrome. The NDSS reports that Nondisjunction Trisomy 21, in which there are three copies of chromosome 21 instead of two, is the most common type of Down syndrome. Prior to or at the point of conception, a pair of 21st chromosomes in either the

First of all, it is important to define Down syndrome. Traditionally, people are born with 46 chromosomes, 23 from the mother and 23 from the father. Down syndrome usually occurs when a person is born with an extra copy of chromosome 21. There are, however, other instances where Down syndrome can take place. For example, a person with DS might have it where, “...an extra broken piece of a twenty-first chromosome is attached to another chromosome (called translocation pattern)” (Berk, 2014, p. 40), a parent can be a carrier of the disorder, or a mosaic pattern could occur. A mosaic pattern is where a problem occurs in mitosis, resulting in some cells with defective chromosomes (Berk, 2014). How, then, can a mother know if she has a child with DS?

A person that has Down syndrome may have some physical problems or disabilities. Some common physical problems are: short necks, poor muscle tone, a small head and an overall smaller body. Approximately one third of babies born with Down syndrome have heart defects, most of which are now