Noonan Syndrome Nicole Mitchell Dr. Hendricks Principles of Biology 1114 April 19‚ 2013 Mostly everyone in the world has heard of some type of genetic disorder. But most people haven’t even heard or understand about Noonan Syndrome. Noonan syndrome is a genetic disorder characterized by distinctive facial features‚ developmental delay‚ learning difficulties‚ short stature‚ congenital heart disease‚ renal anomalies‚ and bleeding difficulties. Noonan syndrome affects a good percent of the world
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Klinefelter Syndrome is a syndrome in which a person has an additional X-chromosome. It is not life consuming‚ but rather people who have this syndrome can live perfectly normal lives proper treatment and care‚ if precautions are taken early on. Dr. Harry Klinefelter in 1942 first identified the syndrome. Now some may ask what Klinefelter syndrome is. Klinefelter syndrome is a syndrome in which a person inherits an extra X-chromosome making their genetic makeup xxy instead of the normal How it occurs
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the disease. Progeria Research Foundation also funds medical research that is specifically aimed at finding the cause. Treatments and cures for this syndrome are more reasons that the foundation funds research for the disease (How PRF was formed). Progeria is an outcome of a fault in the Lamin A(LMNA) gene (Hutchinson-Gilford Progeria Syndrome 2012). The LMNA gene has codes that are for two proteins‚ Lamin A and Lamin C. These proteins play a big role in stabilizing the inner membrane of
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Hunter Syndrome Hunter syndrome is a rare genetic disease that almost always occurs in males. This incurable disease is also called mucopolysaccharidosis II (MPS II). This disorder is caused by the deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). This enzyme is needed to successfully break down glycosaminoglycans‚ as part of the body’s normal recycling and renewal process. In a person with Hunter syndrome‚ enzyme I2S is missing or not working correctly. It is the accumulation
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Marfan Syndrome Wesley Thompson Jim Hutchins Biomedical Core 1110 November 19‚ 2011 Marfan syndrome is a variable‚ autosomal-dominant disorder in the connective tissue with distinct physical characteristics. The principal features affect the cardiovascular system‚ eyes and skeleton. This condition affects the connective protein that forms the structural support for tissues outside the cell. This disease is a result of a faulty makeup of chromosomes. Since MFS (Marfan Syndrome) is an
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Ophelia Syndrome Study Skills November 12‚ 2012 In the essays of Diagnosing and Treating Ophelia Syndrome and Everybody is Ignorant on Different Subjects two topics are discussed which are related‚ in that they both have to do with learning and being able to think as an individual. The Ophelia Syndrome is not processing the ability to create one’s own opinion. Ophelia is a character in the play Hamlet. She is described as a helpless child and has a “Lord” or authoritative figure that forces
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DOWN SYNDROME TRISOMY 21 BY: CYNTHIA AGUILAR 11/05/2012 Down syndrome affects many people in this world. Not only does it affect the person diagnosed as Downs‚ but it also affects their family and everyone around them. There are physical characteristics that help you identify somebody with Downs. There are also some health concerns that you need to worry about. Down’s Syndrome‚ it is one of the most frequently occurring chromosomal
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Metabolic syndrome Insulin resistance syndrome; Syndrome X Last reviewed: June 2‚ 2012. Metabolic syndrome is a name for a group of risk factors that occur together and increase the risk for coronary artery disease‚ stroke‚ and type 2 diabetes. Causes‚ incidence‚ and risk factors Metabolic syndrome is becoming more and more common in the United States. Researchers are not sure whether the syndrome is due to one single cause‚ but all of the risks for the syndrome are related to obesity. The
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In this imbalance research paper‚ it will discuss and explain of a certain disorder in the nervous system called Tourette’s syndrome. It will also acknowledge the current studies and research that can potentially find a way to cure this disorder. First‚ we need to more knowledgeable about this disorder. Tourette’s syndrome “is a nervous system (neurological) disorder that starts in childhood. It involves unusual repetitive movements or unwanted sounds that can’t be controlled (tics)” (Mayo Clinic
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01/29/2003. The SSA granted disability benefits because of borderline intellectual functioning and pervasive developmental disorder. She had a history of Apert’s syndrome
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