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Genetic Disorder: Down Syndrome
Nursing 7 Pages

Genetic Disorder: Down Syndrome

Question

The paper will be a literature review on a genetic disorder.  The paper should include information about the symptoms and diagnosis of the disease, but should focus mainly on the genetic aspects and current research (i.e. dominant/recessive, gene function, prevalence, autosomal/sex linked, polymorphism, penetrance, identification, chromosomal location and mapping, etc).  You should find sources for this paper using a medline search (www.ncbi.nlm.nih.gov/PubMed). One of the goals of this paper is to have you synthesize material from the primary literature and to that end most of your paper should use the primary literature as your sources. Non-primary sources are okay but should not be relied upon for the bulk of your paper. The minimal number of citations for your paper is 10. Of these 10, 7 must be from the primary literature of science and should be published within the last 5 years. 

The primary literature of science is composed of those papers that are published in peer-reviewed journals and report original research. Absolutely no web site can be counted as a primary source and absolutely no source can be used that does not have a person as an author. No pamphlets or web sites published by societies, universities, or government agencies can be used unless there is a person who has taken responsibility for the content. If there is a fact or conclusion that comes from such a source, then search the literature until you find a source with a person to whom you can attribute said fact or conclusion. Your paper must be typed, double-spaced throughout, and on only one side of the paper.You must use 12-point, Times Roman font. All statements in your paper must be documented with citations. You must use current APA format.

Part I – Introduction

Identify a disease that can be linked to a particular genetic alteration (either inherited or random mutation) or alterations. Briefly discuss the disease in terms of pathogenesis, pathophysiology, and clinical manifestations. (15 points)

Part II – Genetic Pattern

Discuss the normal function of the gene/genes involved and the specific genetic pattern of the disorder(inherited vs random); penetrance; dominant/recessive; chromosomal; autosomal vs sex linked etc. (20 points)

Part III – Literature Review

Conduct a thorough literature review of the topic and provide a summary that synthesizes the information obtained in that review. (Note a literature review is not a listing of research articles with brief summary but rather a synthesis of information obtained). (50 points)

Part IV – Conclusion

Provide a brief summary of the information obtained (5 points)

Part V – APA format; spelling; grammar; punctuation. This paper should be written as if it were to be published in a peer reviewed journal. No spelling; grammar or punctuation errors are acceptable. (10 points)

The paper is about one genetic disorder***

use 12-point, Times Roman font. All statements in your paper must be documented with citations. You must use current APA format.

paper will be submitted to turn it in.com

Solution

Title: Genetic Disorder: Down Syndrome
Length: 7 pages (1925 Words)
Style: APA

Preview

Genetic Disorder: Down Syndrome

Introduction 

Down syndrome is a genetic disorder that is brought about by the presence of part, or all, of the third copy of chromosome 21 in the genetic makeup of an individual. The disorder is mainly causes a delay in physical growth where a person remains in one of the developmental stages for quite some time. People of the same age could be far much ahead in terms of height, weight, and brain development while the one suffering from this order disorder remains in a stage without any form of development. 

The main features of the disorder include facial deformity where the person fails to change in terms of facial appearance. In such a case, an adult will be mistaken for a young person. In some situations, a victim is likely to encounter mild or moderate intellectual disability. People with the condition would have an IQ of just fifty which is equivalent to those of children aged eight to nine years (Steinbock, 2011). The disorder is not inherited because the parent of an affected person could be normal implying the extra chromosome that brings the problem occurs by random chance. 

Studies have failed to establish a link between the disorder with particular behaviours and environmental factors meaning the environment plays no role in manipulating the genes to cause the disorder. During pregnancy, researchers have established that the disorder can be identified through the process of parental screening and diagnostic testing. After birth, the disorder is established through direct observation and genetic testing. The disorder has no cure hence mothers with unborn babies diagnosed with the disorder are advised to procure an abortion early enough. With proper education and quality care, a person suffering from this disorder could be helped to improve the life lived.

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