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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Having a Down syndrome is such a difficult situation for an individual to have. They have slow physical and mental capabilities that lead them to discrimination. Physical features of having a Down syndrome. Including flattening of the head; slanting of the eyelids; a gap between the first and the second toes; a depressed nasal bridge; relatively small ears‚ mouth‚ hands and feet; short stature; decreased muscle tone and loose ligaments among others. Not every child with Down syndrome has all of these
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Noonan Syndrome Noonan syndrome is a genetic disorder that was once known as Turner-like syndrome. It is a mutation of several genes where they develop proteins that are continuously active; which ends up disrupting the control of the cells growth and division resulting in abnormal developments of the body. Noonan syndrome can affect a person’s physical appearance in multiple ways‚ along with their mental state of mind. This syndrome equally affects males and females. Noonan syndrome was first
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Down Syndrome is a chromosomal abnormality and probably the most common genetic condition‚ occurs in approximately one in every eight hundred to one thousand live births or accounts for approximately 5-6 per cent of intellectual retardation. Although‚ most students with Down’s Syndrome are between the mild to moderate range of mental retardation. Initially‚ Down’s Syndrome was given the label of Mongolism due to the physical characteristics of the disorder. A student with Down’s Syndrome is usually
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published the first report on the symptoms of Turner Syndrome. It was published as “A Syndrome of Short Stature‚ webbed beck and infantilism”. It was a report on seven girls who shared similar features to each other. Dr. Turner helped with the advancement of treatment for the girls with the syndrome. He did this by pioneering the use of exogenous sex steroids for treating ovarian failure (“Years of Medical Advances in Turner Syndrome”) . Today‚ Turner Syndrome occurs in 1 in 2‚500 females worldwide. 15% of
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