...A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. Abnormalities can range from small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. Most disorders are rather rare and effect one person in every several thousands or millions. Three examples of genetic disorders are Down syndrome, Turner syndrome, and Breast/Ovarian cancer. Down syndrome, also called Trisomy 21, is a developmental disorder which is caused by an extra copy of chromosomes 21. It is named after John Langdon Down who is a British physician who described the syndrome in 1866 (Living With Down Syndrome). The extra genetic material causes delays in the way a child develops, both mentally and physically. The physical features and medical problems associated with Down syndrome can vary widely from child to child. While some children with Down syndrome need a lot of medical attention, others have healthy lives. Children with the disorder tend to share certain physical features such as a flat facial profile, upward slant of the eyes, small ears, and a protruding tongue. Although some children with DS have no significant health problems, others may experience some medical issues that require extra care. One medical issue is pulmonary hypertension which is a serious condition that can lead to untreatable damage to the lungs. To detect this issue all infants should be evaluated by a pediatric cardiologist. Two other medical issues...
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...3 2014 Genetics Down Syndrome Down syndrome (DS) or Trisomy 21 is a complex developmental genetic disorder in which a person has 47 chromosomes instead of 46. Normally, a fertilized egg has 23 pairs of chromosomes. But in most cases, people living with Down syndrome have an extra copy of chromosome 21 also known as Trisomy 21, which is responsible for 95% Down syndrome cases and most common genetic cause of human mental retardation, with an incidence of 1-600/1-1000 live births. It is also responsible for premature pregnancy failure. It is the leading cause of cognitive impairment. Down syndrome occurs because of an abnormality characterized by an extra copy of genetic material on all or part of the 21st chromosome. Every cell in the body contains genes that are grouped along chromosomes in the cell's nucleus or center. There are normally 46 chromosomes in each cell, 23 inherited from your mother and 23 from your father. When some or all of a person's cells have an extra full or partial copy of chromosome 21, the result is Down syndrome. Down syndrome is associated with mild to moderate learning disabilities, developmental delays, characteristic facial features, and low muscle tone in early infancy. Many individuals with Down syndrome also have heart defects, leukemia, early-onset Alzheimer's disease, gastro-intestinal problems, and other health issues. The symptoms of Down syndrome range from mild to severe. Life expectancy for individuals with Down syndrome has dramatically...
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...are affected from down syndrome. Though, all of these 400,000 people suffer from the same genetic disorder, each person that is affected are different in their personality, needs, and individuality. Down syndrome doesn’t just affect the person’s looks and genetic mismatches, but also the way they live life and the treatment they need and will have to undergo. In addition, there are 3 different types of down syndrome. Trisomy 21, Translocation and Mosaicism. Standard Trisomy 21 is when an extra 21st chromosome is duplicated. The extra copy could come from the egg or sperm cell. Translocation is caused when pieces of the 21st chromosome is located on another chromosome such as 14 or 17. And finally Mosaicism, Mosaicism is the presence of multiple types of cells with different genotypes in one individual cell. An example of this is when, some cells contain the usual 46 chromosome but will also contain genetic material of 47 as well. (What is Down Syndrome?pg.2-3). All of these types are all genetic mutations of...
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...fibrosis is a genetic condition which is caused by the faulty CFTR gene which is on chromosome 7. This faulty gene blocks the normal workings of a protein which then allows too much salt and not enough water into the cells. This then builds up thick, sticky mucus in the tubes and passageways in the body which cause blockages to occur which then damage the lungs, digestive system and other organs. This then results in inflammation and swelling and infections. This faulty gene has to be inherited by both parents to develop cystic fibrosis, but it is still a relatively common genetic condition as it is estimated that 1 person in every 25 carries the faulty CFTR gene. When both parents’ carries the gene there is a one in four chance that the child will not inherit either of the faulty genes and will not be a carrier of the condition. There’s also a one in two chance that the child will inherit only one of the faulty genes from one of their parents instead of both of them which would mean that they would not have cystic fibrosis, but they would be a carrier of the condition. Finally, there is also a one in four chance that the child will inherit both copies of the faulty gene which would mean that the child would have cystic fibrosis. Downs syndrome The cause of Down syndrome is that it is a genetic condition which occurs when an extra copy of chromosome 21 is present. Chromosome 21 causes physical and developmental characteristics associated with Down syndrome which is due to...
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... about 6,000 infants are born with Down syndrome, which is roughly 1 in 700. Down syndrome is a genetic chromosome disorder causing developmental and intellectual delays. Therefore, many families, in the early twentieth century, thought that children with Down syndrome were less human and required care that the families could not do. Many children with Down syndrome were put into intuitions soon after birth. These children were put into large institutions so that society would not have to see the horror of their lives. Down syndrome is a genetic disorder that causes developmental and intellectual delays, abnormal appearance, and an impact on family. Down syndrome can be diagnosed in two ways before the baby is born: parental screening, and diagnostic test. Parental screening can check if the fetus has a chance of having Down syndrome. This test does not tell you for sure if your child may have Down syndrome, just an estimate....
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...baby has Down's syndrome By DAILY MAIL REPORTER UPDATED: 12:13 GMT, 7 March 2011 Doctors have developed a blood test to check unborn babies for Down’s syndrome. The approach could save pregnant women from having the invasive examinations currently available, which raise the risk of miscarriage. Current blood tests can only tell if a baby is at risk of Down's Syndrome. Scientists from Cyprus, Greece and Britain said the new technique correctly identified 14 Down syndrome cases and 26 normal foetuses in a blind test. They believe it will also be possible to diagnose the condition earlier on. Study author Philippos Patsalis, of the Cyprus Institute of Neurology and Genetics, said: 'The method is simple and fast and easy to perform in every genetic diagnostic lab worldwide because it does not require expensive equipment, software or special infrastructure. 'The test is the first worldwide to demonstrate 100 per cent sensitivity and 100 per cent specificity in all normal and Down's syndrome pregnancies examined.' Down's syndrome is a genetic disorder that causes physical and learning disabilities and raises the risk of heart disease. Infants with the condition have three copies of the Chromosome 21 instead of the normal two. It affects about one in every 700 live births but women of 40 are 16 times more likely to have a Down's child than a 25-year-old. At present all pregnant women are offered screening to see if their baby is at risk of Down's syndrome. For a firm diagnosis...
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...Down syndrome is a common genetic disorder that establishes from a chromosomal error. Chromosomes have genes; these genes contain the genetic information that exists in every cell in the body. A zygote is formed when a sperm cell fertilizes an egg cell, when this happens, 23 chromosomes are given to the zygote from each parent, totalling to 46. A deficiency can occur during the division of the sperm or egg cell (a process called meiosis), which causes there to be one extra or one less chromosome. This is called non-disjunction. A baby born with Down Syndrome has an extra number 21 chromosome, this is called trisomy 21.The screening methods used for the diagnosis of Down Syndrome are expanded Alpha Fetoprotein (AFP), Chorionic Villus Sampling (CVS), Nuchal Translucency Screening (NT), amniocentesis, and ultrasounds....
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...is with Down syndrome. Down syndrome is the most common of the chromosomal conditions since over 6,000 babies bear with the disability in the...
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...Down syndrome Development Psychology Down syndrome Love a four letter word that many will take and throw around as though the word is a ball to be toyed with. One seeks to have someone say “I love you” no matter what their ability is as being mentally challenged or not. A parent does not love his or her child any less if he or she suffers an illness such as that of Down syndrome (DS). In order to completely understand how the love of a mother and father can be given to a child with such a disability, the individual needs to gain an understanding of what Down syndrome is. The reader of this paper will learn how Down syndrome got the name, what Down syndrome is, the case for this disorder, the facts that are known of Down syndrome. The methods used to test and find DS before the birth of a child. Statistical facts, the medical conditions which are present, how parents and teachers work with those born with DS. How the eating habits, sexuality habits of males and females with Down syndrome are viewed. The length of the life expectancy for someone who is challenged with DS compared to someone that is not mentally challenged. The last thing that I will cover within this paper is that of foundations that have been created to conduct research and treatment for those with Down syndrome and to answer the question that many may have as to there being a cure for Down syndrome. Down syndrome a term that many are familiar with in the United States; the scientific name...
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...How to find more information about Genetic Screening for Diseases and Disorders:"FAQ About Genetic Testing." FAQ About Genetic Testing. N.p., n.d. Web. 30 Dec. 2013. http://www.genome.gov/19516567You can find reliable, and more information here at this website because it goes into specific detail about genetic screening, what it is exactly, and the break down of genetic screening. All need to access is a computer and just type in the URL above."Genetic Testing." KidsHealth. The Nemours Foundation, n.d. Web. Nov.-Dec. 2013. <http://kidshealth.org/parent/system/medical/genetics.htmlIf you want more information on Genetic screening during pregnancy this is a great site to visit. It is very broad, but helpful. Great help for the future. The book below has a little section in it that has information about genetic screening that could help.Teichler-Zallen, Doris. "Genetic Screening and Testing." To Test or Not to Test: A Guide to Genetic Screening and Risk. New Brunswick, NJ: Rutgers UP, 2008. N. page. Print. | | | MLA Work Citation"First Trimester Screen." American Pregnancy Association. N.p., n.d. Web. 05 Jan. 2014.http://americanpregnancy.org/prenataltesting/firstscreen.html"Genetic Screening and Diagnostics." Nature.com. Nature Publishing Group, n.d. Web. Nov.-Dec. 2013. "Genetic Testing." KidsHealth. The Nemours Foundation, n.d. Web. Nov.-Dec. 2013.<http://kidshealth.org/parent/system/medical/genetics.html>."Health 101: Genetic Testing Before & During Pregnancy...
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...Genetically Transmitted Disorders Introduction Genetics originated in the mid-19th century when Gregor Mendel discovered over a ten year period of experimenting with pea plants that certain traits are inherited. His discoveries provided the foundation for the science of genetics. Mendel's findings continue to spur the work and hopes of scientists to uncover the mystery behind how our genes work and what they can reveal to us about the possibility of having certain diseases and conditions. The scientific field of genetics can help families affected by genetic disorders to have a better understanding about heredity, what causes various genetic disorders to occur, and what possible prevention strategies can be used to decrease the incidence of genetic disorders (Pitman, 2002). What is Heredity? Why do children look like their parents? Why do brothers and sisters resemble each other? This is because we “inherent” traits from our parents. The passing of traits from parents to child is the basis of heredity. Traits are physical characteristics. Eye color, nose shape, and many other physical features are some of the traits that are inherited from parents (Kristine & Stewart, 2007). What is genetics? Genetics is the science that studies the mechanics of heredity, or the means by which traits are passed from parents to offspring. Through genetics a number of specific disorders have been identified as being genetically caused (ibid, 2007). Dominant Inheritance ...
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...References American Physical Therapy Association. (2013). Physical therapist’s guide to Down syndrome. Retrieved on February 25, 2017. From www.moverforwarddpt.com/symptomsconditionsdetail.aspx?cid=8080eb16-5b18-4ff6-be93-73763c9b3b5 American Physical Therapy Association. (2016). New recommendations for pt treatment of childhood obesity. Retrieved on February 12, 217 from www.apta.org/PTinMotion/News/2016/6/13/PTJChildhoodObesity/ American Physical Therapy Association. (2016). Physical Therapist’s guide to obesity. Retrieved on February 12, 2017, from: www.moveforwardpt.com/symptomsconditionsdeatil.aspx?cid=df77f3aa-573b-4d1e-893b-18c88e6cedce Atun-Eidy,...
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...markers of chromosomal abnormalities discussed by Dr. Cohen as he performs the ultrasound. 5. (a)What risks are associated with various prenatal assessment measures? (b)What are some ethical considerations in the use of prenatal monitoring procedures? 6. How prevalent are birth defects resulting from genetic factors? 7. What are some other, non-genetic factors (not due to hereditary) that can affect prenatal development? 8. Eleanor began taking prenatal vitamins three months prior to conception, and she stopped consuming alcohol in the month prior to conception. What problems will her careful, planned approach likely rule out with (a)use of prenatal vitamins and (b)non-alcohol consumption 1(a) Down syndrome (b) Down syndrome have varying degrees of intellectual disability characteristic facial features and, often heart defects and other problems. (c) Down syndromes varies positively with the age of the parents: older parents are more likely to bear children with the syndrome. 2.Yes. To look at the baby chromosomes. 3. (a) He perform a detailed ultrasound(b) The baby is in a Breech position. 4.Down syndrome and Spina bifida 5. Risk of a woman having a baby with down syndrome. Risk of a woman having a baby...
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...events in a population, both descriptive and analytical epidemiology are important (Stroup, D. & Thacker, S., 2009). Three categories of data sources commonly used in epidemiologic studies including surveillance data, census data, and vital records, data collected for other purposes, and epidemiologic data (Hilfinger Messias, McKeown, and Adams 2012). The epidemiological triangle is composed of three elements of disease, and includes host, agent, and environment. Changes in one element can increase or decrease a person’s risk of the disease (Hilfinger Messuas, McKeown, &Adams, 2012). The purpose of this paper is to describe the epidemiology of children with Down syndrome utilizing the principles of epidemiology, specifically, descriptive epidemiology. Down syndrome description Down syndrome, also known as...
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...What is Down syndrome? Down syndrome is genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so development problems range from moderate to serious. Down syndrome is the most common genetic cause of severe learning disabilities in children, occurring in one in every 700 to 800 infants. Increased understanding of Down syndrome and early interventions make a big difference in the lives of both children and adults with Down syndrome. Down syndrome is also known as Trisomy 21 syndrome. Trisomy 21 is due to an extra copy of chromosomes number 21. Instead of having the normal two copies chromosomes number 21, the person with Down syndrome has three copies of chromosomes 21. Meaning normally a fertilized egg has 23 pairs of chromosomes. In most people with Down syndrome, there is an extra copy of chromosome 21. (Rogers, 2007, pg.6) The formal story began in 1866, when 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,...
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