Down Syndrome : The Common Genetic Condition Essay

There are no standard medical problem or physical defect that is linked with all patients with Down Syndrome. The symptoms can differ from one child to another, which is why some child patients require a lot of medical help, whereas many others live healthily (Girod, 2001).

Down Syndrome (otherwise called Trisomy 21) is the most widely recognized hereditary issues that causes a long lasting scholarly disability, formative postponements and different issues. Down Syndrome influences individuals of any age, races, and financial levels. It is a standout amongst the most as often as possible happening chromosomal variations from the norm, happening once in each 800 to 1000 live births. More than 350, 000 individuals in the United States alone have Down Syndrome. My objective for this paper is to discuss the three unique sorts of Down Syndrome and to discuss the contrasts between them.

With today’s technological advances people should look up a web site, www.ndss.org, specifically for information on people with Down syndrome. In today’s societies a person with Down syndrome still fall into common misconception about who or why they were born Down syndrome. Common misconceptions for a person with Down syndrome consists of them being contagious, they have three of every chromosome, and the umbilical cord wraps around their neck while in the womb. Everyone should mark their calendars for March twenty-first, national world Down syndrome

Down syndrome is a genetic disorder that affects a person’s facial features and intelligence. Down syndrome is also commonly known as Down’s syndrome, Trisomy 21, Trisomy G, 47,XX,+21, or 47,XY,+21. In 1866, English physician John Langdon Down is known as the “father” of Down syndrome. He was given that title for his publication of an accurate description of a person with Down syndrome, hence the reason why the disorder was named after him; although, this disorder was known as “Mongolism” until the 1970s. More information was learned about Down syndrome in 1959 when French physician Jérôme Lejeune identified that the disorder was caused by a chromosomal error. Then in 2000, a team of scientists was able to classify roughly 329 genes on chromosome 21, opening the door to many more advancements in the world of research for Down syndrome.

There are three forms of Down Syndrome. These three are Trisomy 21, Mosaicism, and Translocation. Trisomy 21 is where there is an extra copy of Chromosome 21 in every cell. Mosaicism is where only some of the child’s cells have an extra copy of Chromosome 21. Translocation is where only one of the 46 total chromosomes has an extra Chromosome 21 where part of Chromosome 21 gets attacked to another chromosome during the formation eggs and sperm, or early in the development of the fetus. Mosaicism and Translocation usually have less symptoms that Trisomy 21. Only translocation Down Syndrome can be inherited by an unaffected parent. Trisomy 21 is because of an abnormality in the reproductive cells, and mosaic Down Syndrome is just a random event that occurs early in fetal development. A baby receives 23 chromosomes from each parent, but with a Down Syndrome child, they receive extra chromosomes. When the Chromosome 21 is supposed to split into two chromosomes, the chromosome does not separate properly and they get three Chromosome 21. So as the brain and physical features develop, problems occur. Down Syndrome affects 1 in 800 newborns. Each year in the United States, 5,300 babies with Down Syndrome are born, and 250,000 people have this condition in

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.

Trisomy 21 is a strange genetic disorder because it happens randomly and has no set precedent, the parents of a child with down syndrome are usually mentally and physically abled. The only trend that has been linked with the development of down syndrome is the mother's age when the child is conceived. The average risk of having a child with Down syndrome is 1 out of 750 live births. Mothers in their early twenties when pregnant have a risk of 1 out of 1,500 of having a child with trisomy 21 and women over 35 have a risk factor of 1 out of 70, the risk factor rises with the age of the mother. Down Syndrome was first discovered by Dr. John Langdon Down, however Dr. Down misinterpreted how Down Syndrome occurs. How Down syndrome occurs was only discovered little under 60 years ago in 1959. With the many complications with down syndrome and little to no knowledge of

Following several technical and medical advances and breakthroughs in the twentieth century, in 1959 French physician Jerome Lejeune identified Down Syndrome as a chromosomal abnormality. It was noted that there was 47 chromosomes in the cell of an afflicted person versus the normal 46. It was later determined that there was a third chromosome 21, called trisomy-21 (figure 1). Down Syndrome occurs in about 1 in every 800 to 1000 births and has affected more than 350,000 lives in the US alone It is caused by the extra chromosome 21 when an embryo has three copies of chromosome 21. Ninety-five percent of the time this is caused by disjunction during cell division. Due to younger women’s higher fertility rate, 80% of Down Syndrome babies are born to women under age 35. However, the chances of having a Down Syndrome baby increases with age of the parents.2 The phenotypes, or symptoms, of a Down Syndrome face are as follows: low muscle tone (weak muscle structure), small nose, flat face, slanted eyes (upward) and abnormally shaped ears (figure 2)

Down Syndrome is a developmental disorder caused by an error in the process of cell division. This disorder is characterized by an extra copy of chromosome 21 (trisomy)(Segal & Pesco, 2015). It is the most common chromosomal disorder and affects 1 in 700 live births (Ramia, Musharrafieh, Khaddage, & Sabri, 2014). According to Segal and Pesco (2015), Down Syndrome is characterised by physical features such as distinct facial characteristics, low muscle tone; conditions such as congenital heart disease; and Intellectual Disability with IQs typically ranging from 30 to 70.

Down syndrome is a chromosomal disease caused by an abnormality dealing with the 21st chromosome. Down syndrome is unique to each individual, and three different kinds can occur. The three different types include Trisomy 21, Translocation, and Mosaic Down syndrome. Not only do these differ, but they all affect the body in different ways. Down syndrome affects appearance, mental cognition, and one’s ability to speak and learn.

I have decided to do Down Syndrome as my disease, because I have always been interested in this disease, and how kids end up with it on birth. Also people with down syndrome don’t take their life for granted, and they can be so happy sometimes. Down Syndrome is a genetic disorder where a person gets an extra 21 chromosome instead of just one. Down syndrome has a very extinct feature on a person, the face is slanted a little bit and they have low muscle tone.(https://www.ndss.org/about-down-syndrome/down-syndrome/)

Down syndrome, also known as trisomy 21, is a genetic disorder caused by a third duplicate of chromosome 21. Down syndrome was first recognized as a distinct condition in 1866 by John Langdon Down, after whom the disease is named. Until 1970, the disorder was known as Mongolism and only recently become accepted as “down” syndrome. In 1959, French geneticist Professor Jerome Jejune discovered an extra chromosome to be the cause for the physical and intellectual abnormalities seen in individuals with DS. (Kazemi, Shojaei, & Sadighi, 2016). Down syndrome affects approximately one in every 1200 babies that are born, making it the most common genetic disorder. (Jobling, Virji- Babuls, & Nichols, 2006).

Down syndrome is an increasingly prevalent disease in the US. It is a genetic disease that is caused by an extra 21st chromosome. One in about every 800 live births has Down syndrome. Down syndrome is the most common form of both identifiable retardation and genetic diseases. Genetics is the study of how certain traits are passed from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of a person’s body. We each have more than a trillion cells. Our genes are located in chromosomes. Each cell has 46 chromosomes or 23 pairs. In the 1900’s, French researcher, Mr. Lejeune, identified Down syndrome as a chromosomal condition. He observed 47 chromosomes in the cells of individuals with Down syndrome,

In addition, Down syndrome disorder influences individuals of any age, races, religious foundations and financial circumstances. It is a genetic disorder that is produced by an added duplicate of chromosome 21. Down syndrome has physical characteristics. For instance, Down syndrome people have poor muscle tone, short arms and legs, flat noses and even have round faces. However, the Down syndrome physical characteristics conditions can cause intellectual disability. Down's Syndrome (2016) concluded: “The diagnosis of Down's syndrome is usually made soon after the birth of the baby because of the baby's appearance.” Basically, there are numerous physical attributes related to the condition, which may lead a parent or birthing specialist, or other therapeutic experts, to presume that the child has Down syndrome disorder.

disorder that affects many people. About one in every 691 babies is born with Down