Genetic Disorders Angelman Syndrome - 866 Words

A genetic disorder is a mutation in an organisms DNA. It is caused by a change in the sequencing of the nucleotides that make up a specific gene. The genetic disorder can be inherited by offspring, but it may or may not show in the offspring depending on whether the genetic disorder is a dominate or recessive allele. There are many genetic disorders that humans develop and inherit. Some disorders cause improvements within the human species while others cause severe retardation of the human species. In this paper, the genetic disorder Angelman Syndrome will be discussed. Angelman Syndrome was first discovered in 1965 by English pediatrician Harry Angelman, he called it â€Å"Happy Puppet Syndrome†. He had observed three children that were admitted to his practice that all displayed similar conditions. He was unable to prove that these children were suffering from â€Å"Happy Puppet Syndrome† because of the technology he had so he decided not to publish any of his research on this disorder. It was not until he was on vacation and saw a painting of a boy with a puppet, which reminded him of the children that he had treated, that he decided to report his findings to medical journals. Angelman Syndrome was not heavily researched until the 1980’s when reports of this disordered appeared in the United States. In 1987, researchers found that the cause of Angelman Syndrome was from a missing portion of the genetic code on chromosome 15. Angelman Syndrome is a genetic disorder thatShow MoreRelatedThe Angelman Syndrome637 Words   |   2 Pagesï » ¿ANGELMAN SYNDROME 3 Angelman syndrome Angelman syndrome was first identified by Harry Angelman in 1965. It is a genetic disorder and Angelman noted the disease as a unique syndrome by the presence of several children in his practice as having flat heads, jerky movements, protruding tongues, and bouts of laughter (Stà ¸ £Ã  ¸â€"ppler 2012: 1). Symptoms usually become notable from ages 6 to 12 months and about 1 in 12,000 to 20,000 people are affected. Although children with Angelman syndrome are proneRead MoreAngelman Syndrome and Prader-Willi Syndrome Essay1517 Words   |  7 PagesAngelman Syndrome Prader-Willi Syndrome Introduction Prader-Willi and Angelman Syndrome are two genetic disorders with vastly differing phenotypes linked by missing genetic imprints on the 15th chromosome’s q arm between regions 11 and 13 . While both orders result in mental deficits, their symptoms are otherwise segregated from the other in their entirety. The differences in the disorders are the result of differing DNA methylation patterns present in maternally and paternally inherited DNARead MoreAngelman Syndrome : A Case Study1454 Words   |  6 Pages Angelman Syndrome: A Case Study Amy Nicole Bishop, MSNA Westminster College December 8, 2017 nicolebishop@outlook.com Keywords: Angelman syndrome, pediatric, GABA receptors, anesthesia, chromosome 15 Angelman syndrome is a rare genetic disorder caused by a mutation on chromosome 15.1 This syndrome is characterized by severe developmental delays, seizures, ataxia, craniofacial abnormalities and a â€Å"happy demeanor.†12 The Gamma-aminobutyric acid (GABA) system in the central nervousRead MoreThe Article Is Titled â€Å"Communication Modality Sampling1269 Words   |  6 Pagesâ€Å"Communication Modality Sampling for a Toddler with Angelman Syndrome† by Jolene Hyppa Martin, Joe Reichle, Adele Dimian, and Mo Chen. 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This field is growing as researchers are unraveling environmental and lifestyle influences on genes (Epigenetics, n.d.). This paper will discuss differences in epigenetics and genetics, current research of epigenetics, and diseases associated with epigenetics. Epigenetics and Genetics Epigenetic means, in additionRead MoreA Research Topic On Autism Spectrum Disorder Essay965 Words   |  4 PagesRobinson Autism Spectrum Disorder is a developmental disorder that displays characteristics of impairments in social interactions and communication, obsessive interests, and repetitive behaviors.1 The DSM-5 characterizes Autism Spectrum Disorder as range of symptoms with varying severity, hence the term â€Å"spectrum†.2 Currently, scientists do not know the exact cause of autism. However, it is agreed upon that the underlying cause is highly likely to be influenced by genetic heritability.3,4,16 RecentlyRead MoreEpigenetics And Autistic Spectrum Disorder1078 Words   |  5 Pages Epigenetics and Autistic Spectrum Disorder Jowan Jones Old Dominion University â€Æ' Abstract This paper plans to focus on autism spectrum disorder and how epigenetics contributes to the development of the disease. ASD is comorbid with other neurodevelopmental diseases including Rett Syndrome, Fragile X, Prader-Willi, and Angelman. These diseases have frequent, identifiable symptoms such as coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and or developmentRead MoreDna Mutations And Its Effects On Humans Essay1341 Words   |  6 Pagesoccur because they increase genetic variation. Mutations can occur during DNA replication if errors are made and not corrected in time. The mutation can have a positive or negative affect on humans. However, mutation can also disrupt normal gene activity. Sometimes DNA mutations don’t give a good or bad affect, the gene might just be different. DNA mutations do not always cause health and developmental problems, only a small percentage of mutations cause genetic disorders but most have no impact on