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Down Syndrome
Trisomy 21 is caused, as the name suggests, by the triplication of the 21st chromosome. Genes which, simplified, contain the blueprints for our cellular structure, are grouped along rod-like structures called chromosomes. Normally, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. In Down syndrome (DS), however, the cells usually contain not 46, but 47 chromosomes. This excess genetic material, in the form of additional genes along the 21st chromosome, results in DS. The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births. Each year approximately 3,000 to 5,000 children are born with this chromosome disorder. It is believed there are about 250,000 families in the United States who are affected by DS. (Berg, 614) Discussed in this paper will be a more detailed description of the pathophysiology of Down syndrome, as well as the discovery, possible causes, physical features, associated conditions, possible treatment, electroneurodiagnostic corollaries, and psychosocial issues.
Down syndrome or Trisomy 21 has been alluded to in art, literature and science for centuries. One of the more interesting of these is the "Changeling" in Gaelic myth. It was believed that when a child was born with the dysmorphic characteristics now associated with DS i.e. epicanthal folds, simian creases, small ears etc., an elf or evil spirit had replaced the infant that was meant to be theirs with the offspring of a mischievous creature. However, it wasn't until 1866, that a physician named John Langdon Down published an essay in England in which he described a set of children with common features who were distinct from other children with mental retardation. Down was superintendent of an asylum for children with mental retardation in Surrey, England when he made the first distinction between children who were cretins (later to be found to have hypothyroidism) and what he referred to as "Mongoloids." Down based this unfortunate name on his notion that these children looked like people from Mongolia, who were thought then to have an arrested development. This ethnic insult came under fire in the 1960s from Asian genetic researchers, and the term was dropped from scientific use. Instead, the condition became called "Down's syndrome." In the 1970s, an American revision of scientific terms changed it simply to "Down syndrome," due to the insinuation of ownership caused by the possessive apostrophe, although it is still called "Down's" in Europe.
Down’s syndrome is a chromosomal condition that is caused by an extra 21st chromosome as there is an error in the body’s cell division. Every human has a nucleus in every cell in the body which contains genes that are grouped along with chromosomes. The normal number of
Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 21. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 21 in each of the body's cells.
Down syndrome is a very common disorder now a day’s, but not many know what it actually is. Down syndrome was a topic that was not as common back in that day. “John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly
In 1866 British doctor John Langdon Down defined and described the characteristic symptoms of Down Syndrome but was unsure of the cause. It wasn't until 1959 that Dr. Lejeunne and his team in Paris showed that people with Down Syndrome have an additional chromosome. We normally have 23 pairs of chromosomes, each made up of genes. The cells of people with Down Syndrome include three chromosome #21 instead of two. The extra 21st chromosome causes an extra dose of proteins. These proteins cause the typical features of Down Syndrome. While the fetus with Down Syndrome is developing, its body cells do not reproduce as fast as usual. That is the main reason why these babies are smaller than average after birth and their brain not as big as those of other newborn children.
In 1886, physician John Langdon Down was the first scientist to identify Down syndrome. Down was the administrator of a mental institute for children in Surrey, England. From his observations and work at the institute, he was able to identify a set of children who exhibited characteristics such as short nose, broad flat face, short and broad hands, which are features commonly identified with Down syndrome. He later wrote an essay entitled “Observations of the Ethnic Classification of Idiots” in which he asserts the notion that it was possible to classify different types of health conditions through race. His essay included his now famous classification of what is today known as Down syndrome, which he categorized as the Mongol...
Down syndrome is a genetic disorder, associated with the presence of an extra chromosome. Downs is characterized by mild to severe mental impairment, weak muscle tone, shorter stature, and a flattened face. Down syndrome is not a very common disease, one in every 691 children are born with Down syndrome. The disability is an illness that people are born with and is not contagious. Most people with Downs have a life expectancy of about 40 or 50 years of age. They only live for that short amount of time because they begin to develop a similar disease to Alzheimer’s. “100% of people with Down syndrome will develop some physiologic signs of Alzheimer’s when they are over 35 years old in the U.S” (Statistics about Down Syndrome). They also die earlier because having Down syndrome increases the risk of leukemia 15-20 times in the US. Therefore most people with Downs will die because of leukemia or heart problems before the age of 50.
Down syndrome, a genetic disorder, is the most common cause for intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21). According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS.
of serious impairment. Down syndrome is caused by an extra chromosome 21. It also causes
crease, slightly flattened facial profile, an upward slant to the eyes, small mouth, and protruding
It is a well known fact that all living things, humans included, are made up of cells. The nucleus of a typical cell in the human body is made up of 23 pairs of chromosomes. Half of the pairs come from each parent. In some individuals there is a full or partial extra copy of chromosome 21 present; these individuals have Down Syndrome (National Down Syndrome Society). Down Syndrome is a genetic disorder that most people know very little about. Since Down Syndrome is something that very few people know much about, this paper will include a lot of information about the disorder that is not well known to the general public. In this paper I will discuss what exactly Down Syndrome is and provide background information and history, describe how and when the disorder is diagnosed, provide insight of what life is like for a person with Down Syndrome and I will do my best to clear up many misconceptions that people often have about individuals with Down Syndrome.
Down's Syndrome Down's syndrome is a genetic condition involving an extra chromosome, this change occurs around the time of conception. A person with Down syndrome has forty-seven chromosomes instead of the usual forty-six. A relatively common genetic disorder, Down's strikes 1 out of 600 babies. In 95 percent of all cases, the disorder originates with the egg, not the sperm, and the only known risk factor is advanced maternal age-at age 35, a woman has 1 chance in 117 of having a baby with Down's; at 40, her odds are 1 in 34. Graves, 1990.
The structure of a chromosome is immensely thin and has the consistency of a strand of hair. It is located in the nucleus of cells and it stores all of our genetic information that we inherit from our parents and ancestors. Chromosomes also dictate the sex of the embryo as well as the stature and bodily role throughout pregnancy and development in the womb. Down syndrome takes place in people when they have an additional replica of chromosome 21 whether it be a complete or incomplete piece. The smallest human chromosome is chromosome 21. It is composed of 48 million materials that build up DNA called nucleotides. While chromosome 21 can also be called "trisomy 21", Down syndrome gets its name from John Langdon Down and English doctor who compared and categorized the characteristics of Down syndrome in relations to someone without the disorder. Nowadays, a mother can choose from 2 different tests that are designed to determine whether or not the fetus has Down syndrome. A screening test can inform the doctor and mother what odds the baby has of being diagnosed with Down syndrome. During a screening test, blood is taken from the woman and an ultra sound is preformed. While the ultra sound is taking place, the health care provider examines the babies neck where the fluid is stored. If any extra fluid appears by the babies
English physician John Langdon Down first described Down syndrome in 1862, recognizing it as a distinct type of mental disability, and again in a more widely published report in 1866. Édouard Séguin described it as separate from cretinism in 1944. By the 20th century, Down syndrome had become the most recognizable form of mental disability. In antiquity, many infants with disabilities were either killed or abandoned. Many historical pieces of art are believed to portray Down syndrome, including pottery from AD 500 from South America and the 16th-century painting The Adoration of the Christ Child. In the 20th century, many individuals with Down syndrome were institutionalized, few of the associated medical problems were treated, and most
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.
It is a genetic condition. It can cause learning disability and also it can affect your physical features. It can affect your physical appearance and also your ability to learn and develop mentally. Down’s syndrome is a lifelong condition, and it occurs from the from birth. Down’s syndrome happening because a baby inherits an extra chromosome. When a baby is conceived, it inherits genetic substances from its parents. Down’s syndrome happening because of a fault with a chromosome which is called the 21 chromosome. It happens when a child or baby inherits an extra 21 chromosome. The child or adult with down’s syndrome inherits 47 chromosomes instead of 46 and which can affect their physical and mental features. It tends to affect both male and females equally. The people who have Down’s syndrome tend to have many typical physical features which include, they may have eyes which slant upwards, they may have small ears, they might have flat back of head, swollen tongue, small mouth, flattened nose bride, they mig...