Angelman Syndrome By Ciera Carr Dr. Glimps 2006 Carr 1 Ciera Carr Dr. Glimps Research Paper Angelman Syndrome Angelman syndrome is a genetic disorder that is caused by a couple of different attributes. The first one is “a deletion on chromosome 15 of maternal origin or paternal uniparental disomy”(Curfs‚ 2004‚ p. 1263). There has also been found that some people with the disorder have no deletion on the chromosome at all. Angelman syndrome was first discovered in 1965 by a doctor
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Exceptionality Report: Angelman Syndrome The Exceptional Child Andrea Gamber-Smith Dr. Harry Angelman discovered the disease that came to share his name‚ Angelman Syndrome in 1965. Angelman syndrome is impossible to diagnose until approximately the age of three to seven when symptoms become evident. The features of Angelman’s syndrome include a stiff body‚ little or no speech‚ constant giggling or laughter‚ and an easily excitable personality. There are
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Art syndrome is a disorder that affects the neurological system. It most commonly affects the boys of families with the inheritance trait. Females are affected as well‚ however‚ not as severe as the males of families. This disorder is significant not only because it is rare but because it is interesting that the disease causes more difficulties and problems in the males than in females. A fact that’s most commonly ask when introduced to this amazing‚ special‚ yet rare neurological disorder. To
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Case Discussion Beal’s syndrome (OMIM # 121050) is a disorder of connective tissues. The syndrome was first explained by Beal’s and Hecht in 1971. It is inherited as an autosomal dominant disorder that is characterized by multiple flexion contractures‚ arachnodactyly‚ severe kyphoscoliosis‚ abnormal pinnae and muscular hypoplasia. It is caused by a genetic mutation in FBN2 gene (encoding the extracellular matrix micro fibril fibrillin 2) on chromosome 5q23. The FBN2 gene provides instructions for
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During the late 1950s two doctors named Dr.Mary Ellen Avery and the other Dr.Jere Mead were working at harvard at the time‚they demonstrated that surfactant was lacking in the lungs of premature babies which is needed to help fill the lungs with air .without it the alveoli will fail leading to a risk of inflammation of the lungs usually with complicators leaving gas build up in the space surrounding the lungs(pneumothorax)‚the space between the lungs (pneumomediastinum) and the area between the heart
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What is Turner’s syndrome? • A genetic disorder which only affects and occurs in females • It is a result of only one X chromosome present in the gamete (monosomy X ) • T.S can also occur if one of the sex chromosomes is partly missing or rearranged • This missing chromosome is responsible for the developmental affects • There is an extremely small chance of the fetus actually surviving How is a person diagnosed? • A person can be diagnosed by taking a sample of blood‚ amniotic fluid or
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Someone I admire In life there may be many people who come into your life. Of them there are two types: the ones whom you forget and the ones you remember for the rest of your life. The second type of people influence you and may have caused changes in your life.The person you admire belongs to this second category of people. They need not even be a mojor part of your story but their presence might have caused a major change in your life. The someone that I admire is my mother. She is the sole
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1 Values portrayed on Reality Television April 25‚ 2011 VALUES 2 Values Portrayed on Reality Television Reality is a genre of television wherein the situations‚ dramatic‚ comedic or otherwise are non-scripted and the people involved are ordinary “real” people and not professional actors. Even though you may not be a fan of television‚ you cannot deny that reality TV is here to stay and yes‚ there are genres of Reality television where positive values are portrayed. In an article
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research paper was conducted around the topics of crush syndrome and amputation‚ which depending on the severity of the crush can coincide with one another. This paper will discuss various medical aspects‚ treatment‚ assessment‚ psychosocial/psychological issues and some research data pertaining earthquakes related to amputation and crush syndrome. Crush injuries can occur through the means of a natural disaster‚ acts of war‚ traffic collisions‚ as well as industrial accidents. Crush syndrome differs from
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1. What year was the first documented case? 1961 (Davis) 2. How was williams syndrome identified? Williams Syndrome was identified by physical and mental characteristics. (Davis) 3. Who was the doctor/Patient? Dr. J.C.P. Williams‚ a cardiologist in Auckland‚ New Zealand. (Davis) 4. Are there any famous people with Williams Syndrome? There aren’t any well-known celebrities with Williams Syndrome. 5. What body systems or part of the body does this disorder affect‚ explain how
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