Smith-Magenis Syndrome (Sms) for Dummies

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Smith-Magenis Syndrome (SMS) for Dummies Chris Gabaldon Palm Beach State College ENC 1102 Professor Patrick Tierney 1/2/12 Abstract The purpose of this research paper is to provide a great understanding of what Smith-Magenis syndrome (SMS) is, how it affects the people who are diagnosed with it, and what exactly goes wrong in the genetics that causes this syndrome. Compared to a lot of genetic disorders, SMS is relatively rare. Features of SMS can be learning disorders, behavioral problems, distinct facial features, slurred speech, and sleeping problems. First described in 1982 by Ann C.M. Smith and Ellen Magenis, the syndrome results from a deletion on chromosome 17, specifically referred to as deletion 17p11.2 ( Fundukian, 2010). Smith-Magenis Syndrome (SMS) for Dummies Smith-Magenis syndrome is one of the many genetic disorders babies have a risk of being born with. SMS is a relatively rare genetic mutation in the general population that is caused by the deletion on chromosome 17. There are several distinct features of the body parts with SMS including mental retardation. Body parts that are usually directly affected are facial parts, the toes, the fore head, the ears, and the hands. Most individuals are not diagnosed until they receive specialized genetic tests, usually in mid-childhood or adulthood (Laurie Fundukian, 2010). SMS is a result of the deletion of 17p11.2 chromosome in the genetics of the reproductive cell in the early stage of fetal development. In SMS patients, a probe representing LLGL1 failed to hybridize with 1 of the 2 chromosome 17 homologs, suggesting that this gene may play a role in the pathogenesis of SMS ( Smith-Magenis, 2011). SMS is a developmental disorder that isn’t typically inherited. In most cases, the deletion occurs accidentally at conception when an abnormal sperm or egg from one parent unites with a

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