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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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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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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about 4% of Down syndrome cases. There are no distinct cognitive or medical differences between people with translocation trisomy 21 and those with complete trisomy 21. ! What chromosome is affected by this disorder? !Chromosome 21 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. The trisomy of the 21st chromosome causes Lets go more in depth about Down Syndrome. Types of Down Syndrome. The scientific name for down syndrome is trisomy 21. With
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Rett Syndrome Abstract Rett syndrome is considered one of the autism spectrum disorders. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive‚ and that begin in early life and influence multiple areas of development. Rett syndrome‚ including the age of onset and the severity of symptoms‚ varies from child to
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Down Syndrome Learning Disability- a childhood disorder characterized by a difficulty with certain skills. Difficulty in such skills as reading or writing in individuals with normal intelligence. Learning disabilities affect the ability to interpret what one sees and hears or the ability to link information from different areas of the brain. These limitations can show up in multiple different ways. These disabilities extend to schoolwork and can delay learning to read or write. Birth Defect-
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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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Down syndrome Down syndrome is one of the most common genetic disorders‚ occurring one in every 600 births (Davis‚ 2008). 3‚500-5‚000 children are born with Down syndrome every year in the United States alone (Pueschel‚ 2008). Down syndrome or mongolism was first identified by John Langdon Down in 1866 although the syndrome has been around for many centuries. In fact‚ according to many paintings dated back to the sixteenth century show pictures of children with Down syndrome like features (Carr
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