down syndrome

856 Words2 Pages

Down syndrome is a genetic disorder that occurs when either an extra or partial copy of chromosome 21 is present. This genetic disorder was selected due to its popularity and prevalence of occurrences. I find Down syndrome intriguing considering how a small defect in how chromosomes separate can cause a multitude of symptoms, including, but not limited to mental retardation and facial deformities. It is a disorder that many have heard about, but don’t fully understand, which is why this genetic disorder is though-provoking to me. Rarely is it inherited, Down syndrome is caused by three types of chromosomal abnormalities: Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. The most common variation, Trisomy 21, occurs in about 95% of cases. According to “Down Syndrome”, this common variation is caused by “an error during the formation of the egg or sperm” and results in “either one having an extra chromosome.” After the sperm and egg mate, the cells produced will have three copies of chromosome 21. In addition, Mosaic Down syndrome, which accounts for 3% of cases, leads to some cells being affected with three copies of chromosome 21, with others unaffected. Finally, Translocation Down syndrome results when an “extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21” (“Facts about Down Syndrome”). In this case, only an “unbalanced” translocation, where genetic material is either lost or gained can cause Down syndrome. Down syndrome remains the most prevalent genetic disorder in humans. According to the National Down Syndrome Society, it affects about 1 out of every 691 newborns and more than 400,000 individual... ... middle of paper ... ... at an increased risk for heart defects, vision and hearing problems, blood disorders, and digestive problems. Almost 50% of babies with the disorder have congenital heart disease. This can lead to high blood pressure in the lungs, weakened ability for the heart to pump blood, and reduced oxygen in the bloodstream. In addition, more than 60% of children with Down syndrome have vision problems, such as cataracts that may be present at birth. Likewise, hearing loss affects about 70-75% of children because of condition called “Otitis media with diffusion”, which causes a collection of fluid to build up within the middle ear. Finally, children with Down syndrome are 10 to 15 times more likely to develop leukemia than other children. All in all, Down syndrome can cause many detrimental physical and mental disabilities, and also may lead to other disorders.

Show More
Related

  • Bruton’s Agammaglobulinemia

    758 Words  | 2 Pages

    Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.

    Read More

  • Letter to the Parents of Child with Prader-Willi Syndrome

    355 Words  | 1 Pages

    However, in a person with PWS, the 15th chromosome has been given 2 genes from the mother, and none from the father. This is called maternal UPD ( uni-parent disomy) in which 2 copies of the maternal chromosome are inherited with no paternal contribution. Despite the presence of 2 intact chromosomes, there is a functional abnormality in the imprinting that may lead to the absence of gene expression from the paternally donated chromosome, resulting in the PWS phenotype (physical trait) that is common in persons with PWS.

    Read More

  • Deletion

    1025 Words  | 3 Pages

    The prevalence of this syndrome is estimated to be 1 in 50,000 births [7] with a female to male ratio of 2:1[8].

    Read More

  • Pros And Cons Of Williams Syndrome

    883 Words  | 2 Pages

    Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...

    Read More

  • Turner's Syndrome

    949 Words  | 2 Pages

    Turner’s affects the second X chromosome in a chromosome pair. This X is either incomplete or missing completely, which causes a decrease in fetal development and also a decrease in the development after birth. Since Turner’s affects the second X chromosome, this means that Turner’s only affects females. However, females of a certain race, nationality or those who live in a certain region of the world have the same risk of having Turner’s. One in every 2000 to 2500 baby girls are born with Turner’s, according to the National Health Service in the United Kingdom. Normally if a baby is conceived with an X chromosome missing, the body will naturally abort the baby, which is a miscarriage. Turner’s is usually the cause of almost 10% of miscarriages in the first trimester.

    Read More

  • Meiosis Essay

    1143 Words  | 3 Pages

    . Other mistakes that can occur during meiosis include translocation, within which a part of one chromosome becomes connected to another, and deletion, in which part of one chromosome is lost entirely. The severity of the results of those disorders depends entirely on the dimensions of the chromosome fragment concerned and, therefore, the genetic data contained in it. Modern technology will find these genetic abnormalities early within the development of the foetus, however at the moment, very little will be done to correct or perhaps treat the diseases ensuing from

    Read More

  • Overview of Down Syndrome

    955 Words  | 2 Pages

    “About 13 of every 10,000 babies born in the United States each year is born with Down syndrome. It affects an equal number of male and female babies” (Johnson P. A. 2014). Down syndrome is a genetic disorder that found across the world, however it is more prevalent in the United States. The cause of the disorder roots to the paring of the human chromosomes. A normal human receives 23 pairs of chromosomes, each pair coming from mother and father. In Down syndrome most people affected have an abnormal cell division of the chromosome. Both parents are carriers of the There are three types of variations that includes trisomy 21, mosaic, and translocation.

    Read More

  • Down Syndrome Essay

    822 Words  | 2 Pages

    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.

    Read More

  • Understanding Down Syndrome: Causes and Health Issues

    852 Words  | 2 Pages

    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

    Read More

  • The Effects of Down Syndrome

    1043 Words  | 3 Pages

    An individual who has Down syndrome can be recognized as different from others since he or she have different physical features, but the question is, what causes individuals to have deformed face, little different features than someone who does not have Down syndrome? The reason some individuals are born with Down syndrome is because of an extra chromosome, this chromosome, which carries number 21. It is also known as Trisomy 21. Having this sort of disability, does not truly affect their life in a way they are not able to live, but it affects their cognitive levels, their physical growth of the child with Down syndrome. As the mother goes for an ultra sound, doctors can detect that the child within the mother’s womb has Down syndrome. (1) Mothers over age 35 have higher risk of giving birth to a child with Down syndrome, and 1 in every 1,000 women at the age of 30. In addition, in every 100 women, who age 40 there is a mother has a child with this case. As woman ages there is a higher chance of conceiving a child with Down syndrome than a woman who is in her mid-20s or younger. (2) This essay will highlight the effects and supports of Down syndrome in children.

    Read More

  • Down Syndrome

    1087 Words  | 3 Pages

    Down Syndrome is a condition that cannot be physically passed on from one person to the next. It is a genetic disorder that is inherited through our parents when something goes wrong during pregnancy. As a result, they have a combination of features typical of Down Syndrome, including some degree of cognitive disability, as well as other developmental delays. One thing we should always keep in mind is that they are children and having Down Syndrome comes second.

    Read More

  • Down Syndrome

    514 Words  | 2 Pages

    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.

    Read More

  • Language Development in Individuals with Down Syndrome

    2336 Words  | 5 Pages

    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.

    Read More

  • Intellectual Disability (Mental Retardation) Explored in What’s Eating Gilbert Grape

    2625 Words  | 6 Pages

    "Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.

    Read More

  • Turner syndrome

    1109 Words  | 3 Pages

    He published a comprehensive medical description of the syndrome. It was not until 1959, that it became clear the syndrome was due to lack of sex chromosome material. Turner's Syndrome is a rare chromosomal disorder that affects one in approximately 2,500 females. Females normally have two X-chromosomes. However, in those with Turner's Syndrome, one X chromosome is absent or is damaged.

    Read More

More about down syndrome

Open Document