Down Syndrome
Introduction 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.
The Origins of the Term Down Syndrome In 1866, a British physician, John Langdon Down, for whom the syndrome is named, first described Down Syndrome, as ?Mongolism.? Down was a superintendent of an asylum for children with mental retardation. He observed a set of children with common features who were distinct from children with mental retardation. The term Down Syndrome didn?t become the accepted term until the early 1970s. More was learned about the condition in 1959, when French Pediatrician/Geneticist Profess Jerome Lejeune discovered that individual with Down syndrome had an extra chromosome. Shortly thereafter, chromosome studies were developed to confirm the diagnosis of Down syndrome (Wright, 2011).
What is Down Syndrome In every cell in the human body there is a nucleus, where genetic materials are stored in genes. Genes carry the code responsible for
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.
. 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 one of the most common genetic disorders in the United States with 1 out of close to every 700 births being linked to the disorder. When identifying the cause of Down syndrome, again we have to look at the extra, very important part of chromosome 21 that occurs in all or some associated with Down syndrome. Although there is no real scientific research showing that Down syndrome is caused by environmental factors or even the parents ' activities before or during pregnancy, research has shown that it increases in
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.
“Keep calm, it’s only an extra chromosome.” These “Keep Calm” sayings are flooding our society, however, some of them have more serious content behind them. This “Keep Calm” statement is referring to a lifelong disorder known as Down syndrome or trisomy 21. Down syndrome (DS) can affect multiple areas of a person’s development both mentally and physically. This paper looks at how to detect DS as early as the second trimester of pregnancy, the effects it has on early childhood development, and the effects on a person’s mental abilities.
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.
Down Syndrome affects many people, even those who don’t have it. Down syndrome is also called Trisomy 21. The term Down syndrome did not become the accepted term until the early 1970’s (“History of NADS”). Down syndrome is the most common genetic condition, almost 400,000 Americans have Down syndrome (“What Is Down Syndrome?”). When the 21st chromosome has an extra copy, full or partial, down syndrome will occur. With the extra genetic material it messes with the development physically and mentally. It also creates certain features connected with Down Syndrome. Some of the well known features are low muscle tone, small stature, upward slant to the eyes, and a single deep crease across the center of the palm (“What Is Down Syndrome?”). These features and their extent can vary from person to person, some may not even have any at all. One in every 691 babies born in the United States has Down syndrome, about 6,000 babies are born with Down syndrome each year in the United States (“What Is Down Syndrome?”). Just like the physical features the medical problems associated with Down syndrome vary from person to person, some may need a lot while others may need little to none. The health problem can be treated with the many resources available to help the people with Down syndrome and their families.
In 1862, John Langdon Down, an English physician, first described those with Down’s Syndrome as “mongoloids” as he believed those with the condition appeared visually similar to people within the Blumenbach’s Mongolian race (Dr Ananya Mandal, 2014). However, in the 1970s, the term Down’s Syndrome replaced mongoloids as it was inaccurate (Dr Ananya Mandal, 2014). During the 20th Century, people with Down’s Syndrome were commonly seperated from society and sent to institutions (Dr Ananya Mandal, 2014). In addition, those with Down’s Syndrome were forcefully sterilized during the 20th Century in an attempt to rid them from the disease (Dr Ananya Mandal, 2014). In 1959, Jérôme Lejeune, a French Pediatrist, discovered that people with Down’s Syndrome have an extra 21st chromosome (Dr Ananya Mandal, 2014). This is where the term Trisomy 21 derrived from which is another name for Down’s Syndrome.
Down Syndrome is a genetic disorder where an abnormality in cell division results in a copy of chromosome 21. This is also known as trisomy 21. Although the cause of the extra chromosome is still unknown, maternal age is the only possible thing to have been linked to having a child with Down Syndrome. Physical abnormalities of Down Syndrome may include, decreased muscle tone, flattened facial profile, upward slanting eyes, and a short neck. Often, children with Down Syndrome develop slower than the development of a child without the disorder. Intellectual abnormalities of Down Syndrome include a shortened attention span, poor judgment, impulsive behavior, slow learning, and delayed language/speech development. Approximately 1 in every 700
Down Syndrome, also known a Trisomy 21, is the most common cause of Mental deficiency that occurs from childbirth. Down syndrome is a genetic disorder that occurs when there is an extra chromosome Present. The presence of an extra chromosome causes this genetic disorder because chromosomes contain all of our genetic information and when this information is disrupted during cell division for example, when one is conceived with an added chromosome this causes many problems with the coding of the DNA. down syndrome occurs during cell division in early fetal stages. usually one inherits 23 chromosomes from each parent but in some cases people inherit an extra chromosome and receive three sets of chromosome 21, this is when the genetic disorder
Trisomy 21(Down Syndrome) is one of the most common types of chromosomal mutation. First published by John Langdon Down in 1866 and associated with chromosomes in 1959 by Jerome Lejeune, this mutation has affected thousands of infants around the world. The main cause for Down Syndrome is the formation of a 2 chromosome coming together in addition to another that does not belong. This produces extra genetic material. This occurs in the 21st chromosome of a human karyotype and this causes the newborn to have 47 chromosomes instead of the normal 46 chromosomes. So when the egg and the sperm come together there is an uneven amount of chromosomes coming from each parent.
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,
Down syndrome was first recognized in medical literature as a distinct disorder in 1862 by John Langdon Down.3 At that time, research in this field was just beginning and individuals with cognitive impairments were not typically differentiated from one another based on medical diagnoses.4 John Langdon Down was the Medical Superintendant of the Royal Earlswood Asylum for Idiots in Redhill, England. The Asylum was among the first to differentiate those with