Williams syndrome also recognized as Williams-Beuren syndrome is a genetic disorder caused by a deletion of more than twenty five genes from chromosome 7. Although Williams syndrome is often non-hereditary‚ the chances of the syndrome being passed on if an individual with Williams syndrome has a child are fifty percent. Individuals born with Williams syndrome often possess distinctive facial features which make the syndrome easily recognized. These features include wide spaces between their teeth
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Asperger’s Syndrome Today there are many different types of disabilities and syndromes. When you have a child to be diagnosed with a disability or a syndrome life can suddenly become overwhelming. This is especially true if they have been diagnosed with Asperger’s Syndrome. Parents sometimes feel guilty because their child has a disability or syndrome. Parents may feel that they are responsible for their child’s disability or syndrome. Parents may feel guilty about their child being diagnosed
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14 November 2011 Outline INTRODUCTION Thesis Statement: Although Down syndrome is used as a general term‚ several forms of this syndrome exist. I. Diagnosis A. Discovery B. Cause II. Types A. Trisomy 21 B. Translocation C. Mosaicism III. Expectations From Therapy CONCLUSION Down syndrome Lot’s of people fail to realize that several forms of Down syndrome exist. “Down syndrome is a set of mental and physical symptoms that result from having an extra copy
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Down’s Syndrome Down’s syndrome is a genetic condition involving an extra chromosome‚ this change occurs around the time of conception. A person with Down’s syndrome has forty-seven chromosomes instead of the usual forty-six. A relatively common genetic disorder‚ Down’s strikes 1 out of 600 babies. In 95 percent of all cases‚ the disorder originates with the egg‚ not the sperm‚ and the only known risk factor is advanced maternal age-at age 35‚ a woman has 1 chance in 117 of having a baby with
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is like that. Have you ever heard of something called Marfan syndrome or MFS? It is a genetic disorder that about one in every five thousand people have and there is a fifty percent chance that it can be passed on to the next generation ("What Is Marfan Syndrome?"). Marfan syndrome is an abnormal condition characterized by elongation of the bones‚ and abnormalities in the cardiovascular system and the eyes (Hamilton). Marfan syndrome is a genetic disorder that can be inherited from ancestors and
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METABOLIC SYNDROME LEARNING OBJECTIVES At the end of lecture students should know – Definition of Metabolic Syndrome – Visceral obesity is an indicator of the syndrome and an independent marker for CVD – Current and some potential future treatment options. METABOLIC SYNDROME CONCEPT (Not New) • 1923 - Kylin first to describe the clustering of hypertension‚ hyperglycemia‚ hyperuricemia • 1936 - Himsworth first reported Insulin insensitivity in diabetics • 1965 - Yalow and Berson
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According to the national heart‚lung‚and blood institute‚ in 2003‚ approximately 40‚000 infants and 150‚000 adults were reported with RDS meaning about one person out of 6‚800 has RDS. It is very important to be careful with this syndrome because if an infant or breathing machine tried to apply some pressure to the lungs there is a high chance of it to rupture causing air to leak making the lung collapse sinking in even farther which turns it into a more severe case‚ usually this
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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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Inside Rett Syndrome Christina Wenn April 10‚ 2013 Rett syndrome is a genetic disorder that I have dealt with first-hand. I babysat a set of twins in my neighborhood‚ and one of the twins‚ Morgan‚ was diagnosed with Rett syndrome as an infant. I started babysitting the twins‚ Morgan and Ryan‚ when I was a freshman in high school‚ but I mainly took care of Morgan. She would giggle and smile‚ but other than that she was mute. Morgan ate baby food and watched Disney movies. She also wore a diaper
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Introduction This paper will explore the case study of Suzanne‚ an independent living 25-year-old woman with Downs Syndrome that presents with progressively worsening congenital heart and lung abnormalities. She has been referred to a transplant center to be evaluated for a possible heart-lung transplant. The transplant center will be in charge of determining whether or not she will be able to handle her post-transplant care. In order to make this determination‚ “A Guide to Moral Decision Making”
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