Bloom’s Syndrome is a rare genetic disease known for affecting someone’s physical and genetic traits‚ this disorder can cause problems for whoever is diagnosed with it. Bloom’s Syndrome is a disease characterized by how its identified‚ its frequency‚ how it was discovered‚ its symptoms‚ and its treatments. Bloom’s Syndrome is identified as an autosomal disorder. An autosomal disorder is when the defected gene is carried on a chromosome other than one of the sex chromosomes. Bloom’s Syndrome happens
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Charge Syndrome Introduction Charge Syndrome is a specific collection of non-randomly occurring congenital anomalies. The acronym CHARGE actually stands for the major features of this syndrome. The letter C stands for coloboma of the eye‚ H is heart defects‚ A stands for atresia of the choanae‚ R is retarded growth and development‚ G stands for genital abnormalities and lastly letter E stands for ear anomalies and/deafness. The cause of this syndrome may be genetically heterogeneous‚ but
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WAGR Syndrome WAGR (Wilms’ tumor‚ Aniridia‚ Genitourinary abnormalities‚ and mental Retardation) Syndrome is a contiguous gene deletion syndrome that is caused by a deletion in chromosome 11. The acronym for the syndrome comes from the various symptoms that are caused by the deletion – wilms’ tumor‚ aniridia‚ genitourinary abnormalities‚ and mental retardation. Wilms’ tumor is a tumor that is found in the kidneys that causes nephroblastoma‚ cancer of the kidneys. Aniridia‚ the absence of the iris
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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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Stockholm Syndrome Throughout the semester our class has discussed various types of deviant behavior and what kind of acts might be considered as deviant. Analyzing the motives behind deviant behavior has been very interesting to learn about and has opened my eyes to various reasons why someone might act deviant. Learning and thinking about the numerous kinds of criminal acts that occur in the world not only make me wonder about the criminals themselves‚ but also about the individuals that 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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Asperger’s Syndrome In today’s society‚ Asperger’s Syndrome is being talked about‚ and seen‚ more than ever‚ from television shows‚ such as Parenthood‚ to magazine articles‚ and of course in the inclusive classroom. Throughout this paper we will be looking at where Asperger’s Syndrome originated‚ some of the characteristics and causes‚ as well as ways in which teachers and parents can better deal with a child that has Asperger’s Syndrome. Asperger’s Syndrome is found under Autistic Spectrum
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The primary intervention in the management of dysmetabolic syndrome consists of lifestyle modifications such as cessation of smoking‚ healthy eating of calories restricted diet and increase in physical activity (Falentin‚ 2010). In dysmetabolic syndrome‚ the main emphasis is on reducing the individual risk factors especially in patients identified as high risk of cardiovascular disease and T2DM. Riediger and Clara (2011)‚ state the importance of doctors using a screening tool for other risk factors
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Tourette Syndrome is characterized by several indicators including muscular tics‚ vocal or phonic tics‚ disinhibited thoughts‚ emotional differences including difficulties in emotional regulation‚ obsessive compulsions and rituals. The characteristics and frequency of indicators can change throughout a “Touretter’s” life time. The onset of Tourette Syndrome is usually in childhood between the ages of 5 and 10 (average 7) years old. People with Tourette Syndrome have little or no control over the
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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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