Question Description
the paper will broadly explain turners syndrome disorder, its prevalence, and history. it will
explore the current view of the cellular and molecular origin of the disease. If
there are many theories, try to elaborate on ONE of the mechanisms as the focus of
your paper. Finally, discuss the social, ethical, and political issues that families with
the disease deal with.
Length: 3 4 pages, not including references.
Formatting: Microsoft Word, APA most current edition.
Details: 1 margins on all sides, double-spaced, 12 inch font
Structure:
outline: APA format then
Title: Should reflect what the focus of your paper is. See helpful hints below on
choosing a title.
Abstract: A paragraph set apart from the rest of the paper that sums up what the paper is
about. You want to give the readers a taste of what is to come. Be concise.
Introduction/Background: Tell the readers the history, prevalence and other interesting
BROAD facts associated with the disorder. When was the disease first reported and by
who? When did we find out it was a genetic disorder?
Body: This is where you will write the bulk of the content of your paper. You will
elaborate on a cellular/molecular mechanism that is disrupted in this disorder and the
experimentation that researchers in the field are currently exploring. What is the gene and
protein affected? Based on your knowledge in genetics what kind of mutation causes the
disease (translocation, deletion, insertion, aneuploidy, missense, point mutation)? How is
it inherited (autosomal or sex chromosome; recessive or dominant?) Does it affect certain
populations more than others? Is there a range in penetrance and severity of symptoms?
What are the current treatments available? What is being explored for future
therapeutics? Use data that are supported by your primary references when appropriate.
Discussion: What are some of the social, ethical, and political concerns associated with
the disease? This may involve health care issues, therapeutics or genetic testing that is
available.
Summary: End with a brief paragraph of your thoughts on the disorder and how your
new background in genetics has helped you understand its significance? What direction is
the field headed in? Sum it up!
References: You must cite your references throughout the text appropriately.
At least three primary research articles must be cited in your document. You must base
the bulk of your paper on peer-reviewed literature. Copying facts from websites is not
appropriate. Your citation format must follow American Psychological Association
(APA) style. See the Excelsior College library website for details.
ALL references must be submitted at the same time your papers are due, as the last
section of the paper. This will prevent me from visiting the literature databases every
time I want to check a reference.
DO NOT list Wikipedia or other websites as sources. You may find references listed on
websites. Usually, they are at the bottom of the page. You must look up the actual
reference and turn these in (not the website!). Similarly, review articles are acceptable,
but if the reviewer refers to a specific experiment or set of data that you are discussing
then take the extra step and reference the original work. How would you like it if you
performed an experiment and then someone else was given credit for your work just
because they wrote a review on it? Scientists talk about other peoples work. Its what
they do. Its OK. In fact, its a necessity. But give credit for original thoughts, data,
images, and anything else you get from them.
required sources that must be used
References
Arnold, R., Neu, M., Hirtler, D., Gimpel, C., Markl, M., & Geiger, J. (2017). Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome. Pediatric Radiology, 47(4), 382-390. doi:10.1007/s00247-016-3767-8
At?c?, A., Panç, C., Karaayvaz, E. B., Demirk?ran, A., Kutlu, O., Ka?al?, K., & … Bilge, A. K. (2018). Evaluation of the Tp-Te interval, Tp-Te/QTc ratio, and QT dispersion in patients with Turner syndrome. Anatolian Journal Of Cardiology / Anadolu Kardiyoloji Dergisi, 20(2), 93-99. doi:10.14744/AnatolJCardiol.2018.98250
Temple, C. M., & Shephard, E. E. (2012). Exceptional lexical skills but executive language deficits in school starters and young adults with Turners syndrome: implications for X chromosome effects on brain function. Brain And Language, 120(3), 345-359. doi:10.1016/j.bandl.2011.12.001
Zelinska, N., Shevchenko, I., & Globa, E. (2018). Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features. Journal Of Clinical Research In Pediatric Endocrinology, 10(3), 256-263. doi:10.4274/jcrpe.5119