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Trisomy 21 Case Study

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The condition pictured in this lesson is Trisomy 21, which is a well-known condition called Down syndrome. It is the most common birth defect in the United States, and it’s named after the physician who first diagnosed it as a syndrome, John Langdon Down. (1) Down syndrome, in most cases, affects every cell of the body, and can cause multiple difficulties mentally and physically. Despite the hardships people born with Down syndrome have, 50% will live longer than 50 years old, and with the right support, live meaningful lives. (1) Trisomy 21 occurs when a person has 47 chromosomes rather than the normal 46. The physician can usually diagnose the condition of Down syndrome when the baby is born, and confirms the diagnosis with an extra blood …show more content…

Some of these characteristics include a small head that can be abnormally shaped and the inner corner of the eyes may be rounded rather than pointed. They may have smaller ears, shortened hands that are wide, and a flat nose. On a person with normal genes will have many creases on the palm of the hand, in comparison a person with Trisomy 21 will have just one long crease in the center of the palm. The nape of the neck may have some extra skin. Mental characteristics of a person with Down syndrome include acts without thinking, they use poor judgment, short attention span, and learning/ development delays. Some may feel frustrated/ angry because they may realize their …show more content…

People born with Trisomy 21 are also more likely to be born with heart defects. Congenital heart disease affects almost half of the babies born with Down syndrome. CHD can lead to high blood pressure in the lungs, the heart not able to pump blood to throughout the body, and cyanosis, which is blue-tinted skin because of the lack of oxygen in the skin. Down syndrome also affects the immune system and makes it much harder for the immune system to fight off infections. People with Down syndrome are twelve times more likely to die from an infection than somebody without it. Children with Down syndrome are also more likely to have epilepsy. Epilepsy is when a person gets many seizures over time.(4)Children with Down syndrome may some of these conditions including many more. Not only do they deal with Down syndrome, but also everything that comes with

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Later it was discovered that it was the result of an extra copy of chromosome 21. The nondisjunction that results in an extra copy of chromosome 21 occurs during anaphase I in meiosis I. The genetic mutation is trisomy 21 (3 copies of chromosome 21). The characteristic phenotypic occurrences that are distinct to the disorder: poor muscle tone, stout neck, flat face, small head, mouth, and ears, eyes slanting upwardly, Brushfield spots, and stout fingers and

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A case is presented at the hospital of a 2-month-old child, diagnosed with down syndrome, and currently recovering from a case of bronchiolitis. The child, Elisa, is also diagnosed with Tetralogy of Fallot, and she will undergo surgery to correct this defect once she has had time to recover from her bronchiolitis. Elisa is the sixth child or Maria and Hector. She has three brothers and two sisters who range in age from 10 to 25 years old.

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Johnny Cade, one of the members of the gang called the “greasers” who died at age 16, 1949 who died from burn injuries and a broken back. Johnny’s parents didn’t want anything to do with Johnny but the gang loved Johnny for who he is, especially Dally. The gang always had each other’s back and his friends are Dallas Winston, Ponyboy, Sodapop, Darry, Two-Bit, and Steve and were in a rival with the Socs. Johnny Cade’s life accomplishments were saving Ponyboy from drowning by killing Bob (a Soc) and rescuing kids from a burning church without think twice. Johnny’s family members were Mr. Cade and Mrs. Cade who don’t care for him and ignore him but mostly the gang were his family because they cared and loved him.

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After a certain point in the development of a child they are not able to correct certain issues like that of walking differently or learning language, although some progress can be seen but not to the extent of a child with a “normal”

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A child with Down syndrome ranges from when they were born to about 12 years old. They tend to develop at a slower rate in comparison to the typical developing child. Physical needs include sitting alone from up to 6 – 30 months, crawling at 8-22 months and standing from either 1 up to 3 ½ years. Physically their gross motor skills and fine motor skills are delayed in development which is why it is important to see a physiotherapist from the 1st or 2nd month after birth right up until they can ride a tricycle.

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Kids with Down Syndrome might be delayed in learning, but they still have the same hopes and dreams as everyone else. Children with Down Syndrome still dream of getting married, having kids, and getting their own house. They enjoy their independence, and like to work for their money. They can still do things like other kids, such as going to the store, counting out money, and buying

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Down syndrome is a condition which extra genetic material slows down the way in which an individual develops, both physically and mentally. As stated by the NHS; each individual with down syndrome is affected differently and can vary, some may need a lot of medical assistance whereas others may lead a normal healthy lifestyle but share similar characteristics. Delayed development: All service users with down syndrome has some degree of learning difficulty and delayed development, however, this varies between each individual. Having down syndrome they may experience some health problems which may effect them in every day life. However yet again each individual is different some may have more health problems than others.

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This could affect the way they interact in the classroom and their ability to develop. An example of a physical disability that could affect the way children develop is Cerebal palsy, this is a condition that affects the movement, posture and co-ordination of a person. They could just be affected physically or they may have seizure, epilepsy or difficulties with speech and language as

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1. Similar to other diseases like, say, cancer, having family members who have it can increase your chance of getting it, though specific genes have been difficult to truly pin. 2. For those with Down syndrome, a gene contained in the extra chromosome increase the risk. 3.

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Down syndrome is a very common genetic disorder. 1 in every 691 kids are born in the United States has it according to the National Down Syndrome Society c. Symptoms of Downs include: mild to moderate mental disability, stunted growth, low muscle tone, and thyroid issues, higher risk for Alzheimer’s and heart failure. (Genetic Disorders Sourcebook, Third Edition) (Transition: Now that you have a better understanding of what Down Syndrome is, let’s take a look at the 2 most common ways Trisomy 21 occurs) II. Although there are more than two ways to acquire the extra 21st chromosome that causes Down Syndrome, I’m only going to cover the two most common.

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In this research paper, I would like to cover the different gene mutations, and three specific mutations: down syndrome, cystic

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(Brenda Finucane, Knowledge and Perceptions About Fragile X Syndrome:, 2013) Children with Fragile X also suffer from frequent ear infections and sinusitis, low muscle tone, gastro-esophageal reflux connective tissue issues such as scoliosis, flat feet, high arched palate, double-jointed fingers and hyper-flexible joints. Children with Fragile X also display specific behavioral characteristics. Behavioral disorders such as ADD, ADHD, autism and autistic behaviors are common in these children. (Brenda Finucane, Knowledge and Perceptions About Fragile X Syndrome:, 2013) Children with fragile X often exhibit social anxiety and other autistic behaviors such as hand-biting and/or flapping, poor eye contact, sensory processing disorders and social aggression.

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Those everyday cravings for pizza, french fries, hamburgers, burritos, ice cream, candy, soda, and coffee that a woman might want, have to be limited when expecting a new addition to the family. A healthy eating and drinking diet is critical to the baby 's growth and development. Certain foods that are unhealthy and dangerous for the human body can harm a woman 's unborn child with birth defects. Birth defects are structural or functional abnormalities present at birth, which result in physical and mental disabilities. Most common birth defects found in babies is down syndrome, an inherited metabolic disorder, congenital heart defects, gastrointestinal and kidney malformations, and even death.

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Most people avoid thinking of the idea of having one of their future children born with a genetic disorder. But this is not a realistic thought. A study made by the National Down Syndrome Society (2014) found out that about one in every seven hundred babies in the United States is born with Down syndrome, a chromosomal disorder caused by an error during the cell division. This results in an extra copy of the chromosome 21 which alters the brain and body development. People with Down syndrome are born with intellectual disability, some characteristic facial features and cognitive delays.

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Thesis: Down syndrome is a wide range of development delays and physical disabilities caused by a genetic disorder. Down syndrome (Trisomy21) Down syndrome is also called Trisomy 21. It is a condition in which a person is born with an extra chromosome.

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