...I have done my report on trisomy 21. This disease was later named Down Syndrome. In 1866 a doctor named John Langdon Down first saw some children that were similar to some other mentally retarded children. He had no idea what this disease was, but was the first person to study it. As time went on medicine became more advanced. In 1959 a French doctor named Jerome Legeune saw people who had this unknown disease, and that they had 47 chromosomes instead of 46 chromosomes. This disease was then given a name, trisomy 21. Trisomy means triplication, so the chromosomes triple on the 21st chromosome. Doctors also called this disease Down Syndrome because the first person who studied it was John Langdon Down. Down Syndrome is caused by a mess-up in cell splitting called non-disjunction. Non-disjunction happens 95 % of all Down Syndrome cases. Scientists still don’t know why non-disjunction occurs, but it seems to have different effects on ages of women. For example, women that are 35 years old have a one in 400 chance of giving birth to a baby with Down Syndrome. While if your 40, the chances go to one in 110, and if your 45 the odds climb to one in 35. Three to four percent of all the cases of Down Syndrome are from Robertsonian Translocation. This happens when there are two breaks in the 14th and 21st chromosome. Then the 14th chromosome is switched with the extra 21st chromosome. Some of these cases triple on part of the 21st chromosome instead of the whole. ...
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...The scientific article that I read was about detecting fetal aneuploidy through maternal blood. Blood samples were collected through a blinded study from 2,882 women that were undergoing prenatal testing, but only 2,625 samples were eligible. The total number of analyzed samples was 532, and these women were selected at random based off of their eligilbility which was determined by the women’s blood sample that was prepared into a cell-free plasma sample. The women that were selected for this study also had to have a singleton pregnancy with only one fetus. Each blood sample was analyzed for six different categories. The first three focused on autosomal defects, including trisomy 21, 18, and 13. The last three dealt with sex status as male, female, or monosomy X....
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...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, doctors must take a sample of amniotic fluid or the placenta, which involves a 1 in 100 risk of miscarriage. Several research teams have published studies suggesting that analysing the mother's blood can detect Down syndrome in a foetus. There is no...
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...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 for DS is usually known for the extra chromosome passed on to the child from the mother or father. Down syndrome may be called trisomy 21 or trisomy G. According to Leshin Down Syndrome originally was discovered “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...
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...Kimberly Douglas Dec 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...
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...that in-depth studies on the disease were made by an English physician. In 1866, John Langdon Down became the “father” of the syndrome due to his scholarly work accurately describing a person affected by the disease (“What is Down Syndrome?” 1). The English physician receives credit for the discovery due to his actual understanding of the syndrome. In addition, other scientists have studied and furthered the knowledge we have on the syndrome (“What is Down Syndrome?” 1). Thankfully, the National Down Syndrome Society states in their article, “In recent history, advances in medicine and science have enabled researchers to investigate the characteristics of people with Down syndrome” (“What is Down Syndrome?” 1). Comforting it is, research remains active on this disease to better the lives and treatments of the affected...
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...Epidemiology NUR 408 October5, 2015 Epidemiology Epidemiology is the basic principle of public health. According to Hilfinger Messias, McKeown, and Adams (2012, p. 255 ), “Epidemiology has been defined as the study of the occurrence and distribution of health-related states or events in specified populations, including the study of the determinants influencing such states, and the application of this knowledge to control the health problems” (Porta, 2008, p 81). The goal of epidemiology is optimal health for the entire community. It is important to remember that health does not merely mean medical treatment for specific diseases, but also assurance of available services and development and implementation of policies and programs to meet the needs of the population as a whole. Descriptive epidemiology is the study of the “association of health events to person, place, and time” (Stroup, D. & Thacker, S., 2009, p. 262). Analytical epidemiology studies the causes and risk factors of health events. In order to evaluate the health 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...
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...living cells, carrying genetic information in the form of gene are called chromosomes. Chromosomes were discovered in the late 19th century by a German Biologist Walther Flaming in 1882.when he was examining the rapidly dividing cells of salamander larvae. Since their discovery chromosomes have been found in the cells of all eukaryotes. Their number however varies from species to species. Penicillium, a fungus has only one pair of chromosomes, while some ferns have more than 500 pairs. A mosquito has 6, frog 26, mouse 40, honeybee 32, corn 20, sugarcane 80 and human cells have 46 chromosomes consisting of 23 pairs. Explanation in this work is based on human chromosomes for our convenience. STRUCTURE OF CHROMOSOMES The most ideal stage to study the structure of chromosomes is the metaphase of mitosis. A metaphase chromosome consists of two identical components called chromatids, which are held together at a specific region called primary constriction. It is usually found in the centre and hence it is commonly described as centromere. It shows a plate-like proteinaceous structure called kinetochore where the microtubules of the spindle become attached during cell division. The portions of a chromatid found on either side of a centromere, are called arms which may be equal (isobrachial) or unequal (heterobrachial), based on the position of centromere. Sometimes, a chromosome may have an additional constriction apart from the centromere, called secondary constriction. Portion of the...
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...spend in gynecology vary widely and can range from community clinics to gynecologic surgery. This clerkship is highly dependent on how much effort you put into it, as evaluations from residents and faculty make up a significant portion of your grade. The clerkship is generally VERY organized, which you will learn to appreciate as you go through other clerkships. Didactics: There are lectures one day per week, which are mandatory. You will be excused from all clinical duties on your didactic day. Apart from the lectures, you will have quizzes over certain topics in Ob-Gyn (refer to syllabus for schedule). The course textbook (Beckman) is an excellent study guide for these quizzes, but make sure you have the latest edition! Other helpful study resources are the online APGO quizzes, Blue Prints, First Aid and Case Files. You are allowed to wear casual clothes on didactic days. Small Groups: The small group sessions are where you will present your H&P and discuss your patient and treatment options. You will typically present a patient and learning issue in a Powerpoint presentation, but this varies with faculty. This is a good chance to impress a faculty member if you are looking for letters of recommendation. Otherwise, if is a good chance to improve your presentation...
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...THE REPORT DOWN SYNDROME ( TRISOMY 21 ) Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 (which is why the disorder is also called "trisomy 21"). Having an extra copy of this chromosome means that each gene may be producing more protein product than normal. Cells seem to tolerate this better than having not enough protein, or having altered protein due to a mutation in the DNA sequence. However, producing too much protein can also have serious consequences, as seen in Down syndrome. Genes on chromosome 21 that specifically contribute to the various symptoms of Down syndrome are now being identified. Down syndrome is typically caused by what is called nondisjunction. If a pair of number 21 chromosomes fails to separate during the formation of an egg (or sperm), this is referred to as nondisjunction. When that egg unites with a normal sperm to form an embryo, that embryo ends up with three copies of chromosome 21 instead of the normal two. The extra chromosome is then copied in every cell of the baby's body. Interestingly, nondisjunction events seem to occur more frequently in older women. This may explain why the risk of having a baby with Down syndrome is greater among mothers age 35 and older. In rare cases Down syndrome is caused by a Robertsonian translocation, which occurs when the long arm of chromosome 21 breaks off and attaches to another chromosome at the centromere. The carrier of such a translocation will...
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...Down syndrome occurs when someone has has a full or partial copy of chromosome 21 the cause of down syndrome is called nondisjunction, nondisjunction is what happens when chromosomes fail to separate properly thus having an extra strand of dna on trisome 21, down syndrome is also known as trisomy 21. Down syndrome affects every 1 in 691 babies in america which make it the most common chromosomal disorder in the world. yet despite it being the most common in the world there is still no cure for down syndrome, doctors have found that some treatments can help. down syndrome causes intellectual impairment and and physical abnormalities, physical abnormalities include short stature, broad facial profile. intellectual impairment included lack ability...
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...BIO483 Exam #4 Review Comprehensive and/or early Weeks Know all conditions that cause splenomegaly All associated diseases with EBV Week 1 Mechanisms of Cellular Adaptation Types of necrosis and pathology where most likely found. Apply the definitions of Atrophy, hypertrophy, hyperplasia, hypoplasia, dysplasia, and metaplasia. Week 2 Pain Throughout Organ Systems General anatomy of kidneys, appendix, gallbladder, pancreas, spleen, male and female reproductive organs. Costochondritis vs Angina Pectoris vs Myocardial Infarctions. Rheumatoid arthritis Gout lab findings Week 3 Fluid Balance and Edema Electrolyte imbalances of sodium, potassium, calcium, and magnesium. Intra and Extra cellular concentrations of sodium and potassium as related to osmotic balance. Know the physical signs/symptoms of electrolyte imbalances including hyper and hypo natremia, kalemia, and calcemia. SIADH lab and imaging findings Diabetes insipidus lab and imaging findings Week 4 Topic 4 Acidosis and Alkalosis Know your acid-bases! Week 5 Topic 5 Cardiovascular Causes of Fatigue Cor-pulmonale, cardiomyopathies Week 6 Topic 6 Thyroid, Adrenal, Liver Fatigue Hashimoto’s thyroiditis vs. DeQuervain vs. nodular goiter vs. secondary hypothyroidism Cirrhosis, Addison disease lab tests and hormone responsible. Is it high or low? Week 7 Topic 7 Bleeding as Indicator of Disease Pathophysiology of Disseminated Intravascular Coagulation Pathophysiology of Hemophilia Ulcers ...
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...Psychology 440 April 21, 2014 Caretaking for a Sister with Down Syndrome My four year old sister was diagnosed with Down syndrome. We are both of Mexican-American descent. Our parents were recently deported back to Mexico and due to the fact that I am 25 years old I was granted primary custody of my four year old sister Isabella. I am currently in the Reserves which allows me to provide for not only myself but Isabella as well. I am off during the week and work part time on the weekends. Being a caregiver for a person with Down syndrome has its struggles as well as its rewards. Down Syndrome Down syndrome is a congenital disorder that is caused by a chromosome deficiency and results in an intellectual impairment as well and some physical abnormalities. Some abnormalities include a single line on the palm of the hand, short stature as well as a wide facial profile. There are different types of Down syndrome and in this case Isabella suffers from trisomy-21 which is caused by a defect with chromosomes 21and typically makes an extra copy. (Dierrsan, 2013). Those with Down syndrome have poor muscle tissue as well a higher risk for heart problems which may result in early death. Down syndrome causes children like Isabella to be developmentally disabled and while she may be four years old her mind is of a two year old which why her outburst are extremely intense at times. As she gets older she will continue to be delayed. This does not mean she and other children like her are...
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...SUBJECT CODE : MPU 3323 SUBJECT TITLE : PERSONAL HEALTH MANAGEMENT PROGRAMME : BAAF CURRENT YEAR : YEAR 2 SEM 1 INTAKE : SEPT 2014 NAME/SEGI ID/UOG ID : SHAMITA A/P KASINATHAN (SCSJ-0019803/000862417) LECTURER’S NAME : MISS BALWINDER KAUR LEARNING CENTRE : SEGI COLLEGE SUBANG JAYA SUBMISSION DATE : 26 OCTOBER 2015 INTRODUCTION TO HEREDITARY DISEASES Heredity can be characterized as the investigation of what reasons likenesses and contrasts between living beings. Another meaning of is that the procedure by which mental and physical attributes are gone by folks to their kids; these qualities in a specific individual. Various extreme sicknesses happen through out the world however for the most part few are influenced by every one, as they arte essentially connected to certain families in particular regions. Some such maladies, be that as it may, are spread overall and influence numerous. Manifestations can be available during childbirth or get to be show sometime down the road and they might likewise differ extensively among individuals with the same analysis. Under typical circumstances, for example, hurtful allele would have been killed from a populace as the influenced people would kick the bucket before repeating. On the other hand, through the illness is uncommon in many parts of the world, it is tranquil basic in West Africa where jungle fever is pervasive. This...
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...Developmental Disorders Autism spectrum disorder (ASD) Diagnosis The first diagnosed case of ASD was in 1938 by American psychiatrist Leo Kanner. A diagnosis of ASD can be made accurately before the child is 3 years old but the diagnosis of ASD is not commonly confirmed until the child is somewhat older. The ages of diagnosis can range from 9 months to 14 years however the mean age of diagnosis is 13 months. On average each case of ASD is tested at 3 different diagnostic centers before confirmed. Early diagnosis of the disorder can diminish familial stress, speed up referral to special educational programs and influence family planning. In the brain The cause of ASD is still uncertain. ASD is a disorder of the cortex, which controls higher functions, sensation, muscle movements, and memory. What is known is that a child with ASD has a pervasive problem with how the brain is wired. The distribution of white matter, the nerve fibers that link diverse parts of the brain, is abnormal. An ASD child’s brain grows at a very rapid rate and is almost fully grown by the age of 10. Symptoms Signs include impairments in social interactions, communication and repetitive or restricted patterns of interest or behaviors. There are also different symptoms at different ages based on developmental milestones. Children between 0 and 36 months with ASD show lack of eye contact, seem to be deaf, lack of social smile, doesn’t like being touched or held, unusual sensory behavior,...
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