The Genetic Disease 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.

. 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).

Thousands of babies are born a day in the United States. One out every 691 babies born has Down syndrome, a disorder caused by an extra copy of the chromosome twenty one. In short, this syndrome shortens the person’s life span, and causes assorted severity of mental retardation. Those carrying this extra chromosome have flattened noses, rounder faces, are petite in size, and are much more prone to additional unhealthy disturbances or effects on substantial systems in the body.

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.

The genetic disorder of Trisomy 21, or Down syndrome is one that has often interested me. I understand that many children born with his genetic disorder can in fact live a full life, often with assistance. When answering the question of what exactly Down syndrome is, a good definition can be one describing this disorder as a genetic condition where a person has an extra 21st chromosome. The typical person has 46 chromosomes, therefore the person born with Down syndrome has 47. This extra chromosome brings with it some physical and cognitive characteristics that include mild to severe cognitive delay, low muscle tone, stunted growth, an easily identifiable upward slant to the eyes, generally a deep crease across the center of the palm and the appearance of a flat face. We have to keep in mind however, that each person with Down syndrome is an individual and might have some of these characteristics to different degrees, or possibly none at all.

Down syndrome (also known as trisomy 21) is a disorder that makes you physically and mentally more challenged than everyone else but you are still able to grow develop and live a partially normal life. The major causes of Down syndrome are first just getting unlucky and having the 21st chromosome be irregular. But if you have a child when you are older than 35 you have a highly increased chance of getting down syndrome also if you have a sibling with Down syndrome or another kid with-it that can also increase the chance of getting down syndrome. Some symptoms of this disorder are, you can be physically less capable than others can and can have a hard time remembering things and can possibly not be able to achieve what seems to be easy things to do daily. However, most important, they only live to about 80. In addition, they can have a hard time reproducing but can still can reproduce.

Down Syndrome is a genetic disorder that occurs when a persons 46 chromosomes abnormally divides into 47 chromosomes, creating a full or partial 3rd copy of the chromosome 21.

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

of babies born with Down syndrome elevated by about 30 percent. The risk of a child having

The possessor of this genotype has the genetic disorder called Down syndrome. Down syndrome is caused by this person having chromosome 21, which is also called Trisomy 21. There are different things you see in people with Down syndrome such as, different physical and mental traits. This genetic condition varies between each person with this genetic disorder. They all have similar features, but do not look the same.

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?

Down syndrome is a disorder in which an individual gets a full or partial extra copy of chromosome 21. Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father, but in most cases of Down syndrome a child gets an extra chromosome 21 for a total of 47 chromosomes instead of 46. The three types of Down syndrome are trisomy 21 (nondisjunction), translocation and mosaicism. According to the National Down Syndrome Society (2012), “One in every 691 babies in the United States is born with down syndrome, making down syndrome the most common genetic condition. Approximately 400,000 Americans have Down syndrome and about 6,000 babies with Down syndrome are born in the United States each year.” Down syndrome causes intellectual disability, developmental delays, and a distinct facial appearance such as a small head, a flattened face especially the bridge of the nose, an almond-shaped eyes that slant up, a short neck, small ears, a tongue that tends to stick out of the mouth, tiny white spots on the iris of the eye, small hands and feet, a single line across the palm of the hand (palmar crease), poor muscle tone or loose joints, and shorter in height as children and adults.

What is Down Syndrome? Down syndrome is where an individual has a full or partial extra copy of chromosome 21. (NDSS) Also, every cell in the body contains genes that are grounded along chromosomes in the cell's nucleus. Continuing forward, there are a normally 46 chromosomes in each cell 23 inherited from the mother and 23 from the father. (Medical News Today). In addition, 80 percent of the babies born with Down Syndrome are born to women under 35 (NDSS). In conclusion, this is what Down Syndrome is and how it develops.