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Eassy about human genetics
Introduction down syndrome
Causes and effects of down syndrome
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Humans are more like the X-Men then they have ever dreamed possible. Studies show that each and every single human in our species have more than two hundred mutations weaved in and out of our DNA. A genetic mutation is a perpetual change in the DNA sequence that makes up a gene. These mutations can occur in two different ways; they can be acquired during one’s lifetime or they can be inherited from one’s biological parents. Some mutations are absolutely harmless; these are the mutations that take up most of the typical human’s body. Nevertheless, there are also some genetic mutations that are harmful to the body. For example, one in every six hundred and ninety-one American babies are affected by Down Syndrome, a form of a genetic mutation. It is estimated that just under six million people worldwide live with the condition today. Down Syndrome is defined as a congenital disorder arising from a chromosome defect, causing intellectual impairment as well as physical abnormalities. In simpler words, Down Syndrome causes humans to have differences in their physical appearances as well as a disability with their mental/learning abilities. This noxious genetic mutation has had different causes and effects for separate people. 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... ... middle of paper ... ...egative impact on the family, the favorable effect it has outweighs the harmful influence. The family may have a lot of stress and anxiety at first, but in the end, the child assists each person in his/her family to make themselves a better person. Down Syndrome has a perilous effect on the child, however. It puts the child in a vulnerable place; the child would have many physical disadvantages (developmental delays, etc.) as well as mental health issues (fatigue, mental retardation, etc.). Children with Down Syndrome are portrayed to be unlucky and although some are, most turn out to be a beautiful addition to the world. In some cases, the treacherous effects of the disorder can put children at more of a disadvantage than they need to be. Thus, gaining knowledge on the origins of Down Syndrome can help people to find an exquisite flower within the stained snow.
Having Down Syndrome is a Horizontal identity. Most Americans view people with Down’s to be disabled and do not thing much past that. But, many people with Down’s see this simply as a part of who they are, just as much as the color of their eyes. To them, it is not a disability, but just a fact of life. Many outsiders do not understand this, which is why the Down’s community is so important. The Down’s community provides those with Down’s acceptance to their identity. While the rest of society rejects and pities them, within their community they can relate with others and be treated equally. Unlike with vertical identities where the parents are automatically insiders, parents must choose to whether or not to support their children’s horizontal identities. Some parents choose not to accept Down’s before the child is born and terminate the pregnancy while others do their best to make sure their child is comfortable in the world. Again, in more recent years, there are movements for society to be more educated and inclusive for those with Down Syndrome, but there is still a long way to go.
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
The human genome is a remarkable system composed of over 3 billion DNA base pairs that encode for the characteristics that makes people distinctly human and unique themselves. Without the genome’s nearly flawless ability to self-replicate the human species would cease to exist. As incredible as this replication methodology is, it is not without its faults. Genetic mutations, though rare and typically harmless, can strike at any time and in various ways. Still, when they do cause harm the effects can be profound and impossible to ignore. Hutchinson-Gilford Progeria Syndrome (HGPS) is an instance where the mutation of just one nucleotide has devastating results. The Mayo Clinic defines progeria as a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. This study defines the disease of progeria by outlining symptoms and identifying causes that lead to its diagnosis. In addition, treatment methods and extensive research that give those affected by the disease hope for a brighter future are highlighted.
Modern technology has provided families the free choice and ability to abort a fetus that they feel is not the the proper one for their lifestyle. These opportunities are present so that the offspring they create is one born with equal opportunity, and one that will be loved and taken care of fully; as is the ethical obligation of a parent. It is ultimately up to a parent whether or not they will bring a child into the world provided that they stay within the law when doing so, but this response will address the ethical criteria under which parents choose to do so. Dawkins feels that if a fetus with something such as Down Syndrome (DS) is brought into the world, not only would it not be loved properly, but it would not be given a life on equal
Having Down syndrome is like being born normal. I am just like you, and you are just like me. We are all born in different ways, that is the way I can describe it. I have a normal life"(Burke, C., n.d.). Where special education is concerned, one must always remember that exceptional learners are different, not less.
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.
Trisomy 21 is a chromosomal disorder. “It is caused by an extra chromosome 21.” (http://www.geneticcounselling.eu) This is due to nondisjunction. During meiosis a complication occurs which results in an extra chromosome. An offspring does not inherit Trisomy 21 (Down Syndrome), but other forms of the disorder can be passed along from a parent to a child.
I want to start today with a fact, a fact that shocked me when I first saw it. 100% of all prenatal pregnancies that are diagnosed with Down syndrome in Iceland are aborted, but before you think about that for too long I want to explain how we got here and how genetic technologies are evolving to help parents and doctors. Screening works by looking for similarities and differences in the genetic markers between two biological samples. It compares the baby's dna to the normal healthy sequence.
The human body consists of twenty- three chromosome pairs, that hold our DNA and genes. Both recessive and dominant alleles come to express who we are physically and emotionally. But, whether they’re recessive or dominant genes, they can be very misleading due to the two theories: “The Nurture Theory,” and “The Nature Theory.”
Down syndrome can be caused by a random error in cell division which results in a presence of an extra copy of chromosome 21. This type of error is called nondisjunction. Usually when one cell divides in two, pairs of chromosomes are split so that one of the pair goes to one cell, and the other from the pair goes to the other cell. In nondisjunction something happens that makes both chromosomes from one pair go into one cell and no chromosome from that pair goes into the other cell. A lot of the time, the error occurs at random during the formation of an egg or sperm. After a lot of research is has been discovered that in more than 90% of cases, the extra copy of chromosome 21 comes from the mother in the
Down Syndrome is a genetic disorder or disease, that occurs during chromosome division, in early human life. When a persons 46 chromosomes abnormally divides crating 47 chromosomes all together. Thus creating a full or partial 3rd copy of the chromosome 21. There are three types of down syndrome, trisomy 21 which is about 95% of cases, translocation accounts for 4% of cases and mosaicism accounts for about 1% of down syndrome cases.
Human genetic engineering can provide humanity with the capability to construct “designer babies” as well as cure multiple hereditary diseases. This can be accomplished by changing a human’s genotype to produce a desired phenotype. The outcome could cure both birth defects and hereditary diseases such as cancer and AIDS. Human genetic engineering can also allow mankind to permanently remove a mutated gene through embryo screening, as well as allow parents to choose the desired traits for their children. Negative outcomes of this technology may include the transmission of harmful diseases and the production of genetic mutations.
Down Syndrome or Trisomy 21 is an extra copy of chromosomes 21; healthy babies have two copies, while down syndrome babies have three copies. Blood tests that pregnant women get have sparked a debate about aborting unborn babies with down syndrome because the parents “can’t handle it” or “dont know how to care for a baby with a disability.”
A genetic mutation is a permanent change in the sequence of the DNA that makes up a gene. A mutation of these sorts can be caused by either inheritance from the parent or caused sometime during the life of someone. The mutation that has been inherited is called a germline mutation. Germline mutations affect virtually the entire body, and they seem to be present in every cell. A somatic mutation, or one that is caused in the DNA of a single cell sometime during the life, can be caused by an environmental factor or a wrong bonding in the DNA molecule. These cannot be passed down to the next generation of children because they occur in a specific cell as opposed to in a reproductive cell. Some mutations occur in the embryo as it is growing. These may occur during cell division, and some of the cells may or may not inherit this mutation. Some mutations are extremely rare, and others are incredibly common. Those that occur in more than one percent across a population are considered polymorphisms. Polymorphisms are considered normal variations in DNA, and they are known to cause simple changes such as variations in blood types and hair color. Although these are not typically fatal, they can influence the creation of some disorders (Lister Hill National Center for Biomedical Communications, U.S. National Library of Medicine, National Institutes of Health, Department of Health and Human Services, USA.gov, 2013).
Down syndrome is a medical condition where extra genetic material physically and mentally delays the way that a child develops (KidsHealth). Laws have been put in place to ensure that children with disabilities, including Down syndrome, are guaranteed to a free public education (National Down Syndrome Society). However, students typically at the elementary level, do not completely understand that other students with disabilities are just like them, regardless of their disability. It is more beneficial for students with down syndrome or those with other disabilities if teachers and administrators educated other students on how people with disabilities learn and function (National Down Syndrome