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Causes and effects of down syndrome
Conclusions of down syndrome
Causes and effects of down syndrome
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Karyotype is the characteristic chromosome complements of a eukaryotic species and they are arranged in homologous pairs. There are many abnormal chromosomes and some of them are Turner syndrome, Klinifelter syndrome, Edwards’s syndrome, Down syndrome and Patau syndrome. The abnormal chromosome that I was given was called Down Syndrome or trisomy 21. We could recognize this disease by looking at the Karyotype because a normal karyotype has two- 21 chromosome but in Down syndrome there are three- 21 chromosomes.
My Karyotype chart represented a male. I realized this because there was one X chromosome and other one was Y chromosome. The disease assigned to me was caused by sex chromosomes which affects both males and females. The Down syndrome could be notified before a child was born. The symptoms of this disease vary more that 50 characteristics. The general characteristics were the growth of the child which would be slower than the average, weak muscles, excess fat and skin, short arms and short legs. The facial features of the people with down syndrome was also different from the average, such as small and low set ears, irregular shaped mouth and tongue, tissue built-up on the iris and irregular or crooked teeth, which was produced late.
It would be fairly easy to understand the cause of Down syndrome (DS). Most people have 23 pairs of chromosomes (total of 46), but a baby with Down syndrome had 47 chromosomes. One of the two parents might be a balanced carrier of translocation. This would happen when translocation of 21 chromosomes attached to another chromosome. There is no specific treatment for Down syndrome at present, but the technology will find a solution soon, for such diseases. There is a treatment which is called Down syndrome treatment and it focuses on controlling the symptoms and the characteristics of the syndrome.
Turner’s Syndrome, which is one of the most common chromosomal abnormalities, is defined as “a syndrome with a chromosome count of 45 and only one X chromosome.” Turner’s was first described in 1938. Henry Turner, an endocrinologist from Oklahoma City, was the first to discover this syndrome. He was curious about why seven of his female patients, six adolescents and one adult, who he was treating for dwarfism and lack of development, were not responding to the treatments. He described the women as not matured, with short necks and low hairlines in the back, and an increased angle at which the elbow was bent. After many tests, the results showed that all of the women were missing an X chromosome.
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
Jacob Syndrome is a rare condition where males contain an additional copy of the Y chromosome in their cells. According to the Genetic and Rare Diseases Information Center, (GARD, 2012), other names for Jacob Syndrome include: 47, XYY syndrome, XYY Karyotype, and YY syndrome. Statistics from Genetics Home Reference (2014) state that Jacob Syndrome appears in approximately 1 in 1,000 male newborns. In the United States, 5 to 10 male newborns have Jacob Syndrome.
Every cell contains forty-six chromosomes (twenty-three pairs). One, out of the twenty-three pairs, is in control of a person’s gender. There two different kinds of chromosomes: X and Y. Males are born with one X chromosome and one Y chromosome. Females, however, are born with two X chromosomes. According to Cindy Dunham and Catherine H. Ward, girls with Turner syndrome are missing part of, or all of the X chromosome (3). The chromosome becomes absent before or shortly after conception (Overview par. 3). Girls diagnosed with Turner syndrome are confirme...
Down Syndrome results when one of the three types of abnormal cell divisions involving chromosome 21 occur. Roger W. Harms, a medical doctor, states, “Human cells normally contain twenty-three pairs of chromosomes. One pair comes from your father and one pair comes from your mother.” In each pair, one chromosome comes from the father, and one comes from the mother. One of the three genetic variations that can cause Down Syndrome is Trisomy 21. This version of Down Syndrome occurs more than 90% of the time. It re...
The type of mutation that occurs in Down syndrome is aneuploidy that is the irregular number of chromosomes in a cell. The most common of the three is the trisomy 21 that occurs in about 90% of people with the disorder. In this factor the human is given three copies of the chromosome 21 instead of the common two copies. This occurs due to the complications of the cell division in the process of the egg or sperm. The next case is mosaic which happen when there are inequality of cells with three copies of chromosome 21 and others with the original two copies. Mosaic appears when there is an unexpected cell division after fertilization. The last and the rarest form is translocation and that happens while the chromosome 21 in cell division is broken off and attached to another chromosome. Since the disorder is unexpected there are numerous amounts of risk factors that are possible based on the severity of the person.
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.
There is no actual behavior or environmental factor that could cause Down syndrome. Down syndrome is mainly caused by three different disorders. Trisomy 21, Mosaic Down Syndrome, or Translocation Down Syndrome, are three different types of causes. “Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 — the child has three copies of chromosome 21 (instead of the usual two copies) in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.” Trisomy is the most common cause for the Down syndrome disorder. The Mosaic Down syndrome is a one of the rare causes that the disorder has. This happens when both normal and abnormal are caused by cell division after fertilization. Translocation Down Syndrome occurs when a part of the chromosome 21 attaches itself to another chromosomes and then it has two unusual copies of the chromosome. Children who have the disorder are different individuals and have different facial appearance. “Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age. In general, developmental milestones, such as sitting and crawling, occur at about twice the age of children without impairment.” Knowing about all the causes or symptoms in Down syndrome can help to try to figure out a way to help the
It is well known that children have Down syndrome within physical features. They are not different than a person who does not have Down syndrome, but their physical features are quite different such as, facial appearance in the face, which is flatter. They also have a slant within their eyes, smaller ears and protruding tongue which is slightly bigger and suspends out a part from the mouth. (2)
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.
Down syndrome, also known as “trisomy 21” is a genetic condition in which a child is born with an extra chromosone which causes certain features and delays in development. In sexual reproduction (meiosis) the new cell will have half of the mothers chromosones 23 and half of the fathers chromosones 23 to make a total of 46 (23 pairs) in the new cell (zygote). In a child with Down Syndrome, they will have an extra chromosone 21 making a total of 47 chromosones. There is no specific reason why this extra chromosone is present, but the older the mother is when giving birth, the more likely that her baby will have Down syndrome. Down Sydrome is named after John Langdon Down, the first person to describe the condition in 1866.
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.
crease, slightly flattened facial profile, an upward slant to the eyes, small mouth, and protruding
As mentioned in the introduction, Down Syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. The extra genetic material is typically responsible for the alteration of physical development. Some of the most common physical traits of Down Syndrome are distinct facial features such as a upward slanting almond shaped eyes, a seemingly flattened face, a tongue that tends to stick out, and small ears. Some of the other physical traits that are sometimes present are short stature, poor muscle tone, and a crease across the palm of the hand (CDC). Due to the poor muscle tone in their bodies, people who have Down Syndrome are more susceptible to conditions such as obesity and sleep apnea...
...omosomes or genetic/chromosomal disorders. The most common type of genetic or chromosomal disorder is Down Syndrome or trisomy 21 (Cherry, n.d.). The condition occurs when a child has three chromosomes at the site of the twenty-first chromosome rather than the normal two. Some of the most common signs of Down Syndrome include round face, thick tongue, slanted eyes, hearing problems, heart defects, and intellectual impairment.