Description
The Course Paper is due on Sunday at the end of Week 7. It will be a thorough review and discussion of a disorder which you chose from the list below when completing your Week 3 Paper Preparation assignment. It is important to note that this is not simply a summary review paper. You will be using the required scholarly literature to support a discussion of specific areas, as outlined below, within the topic that you chose. The paper will consist of a literature review and discussion of the current biological/genetic treatments for your selected topic. The body of the paper will be 6-8 pages in length, not including the title, abstract and reference pages and the annotated bibliography. At least 6 scholarly sources should be used. This paper must be written through a biological lens. Meaning a discussion of the genetic/biological origin and treatments are required. Do not include non-biologically-based treatment methods such as counseling, therapy, support groups etc.
The paper's focus will be a selected disorder from the list below. This topic must be the same as the one you selected for your Paper Preparation assignment.
Turner's Syndrome
The Week 7 Course Paper will include the following:
Title page in APA format (Times New Roman, 12 font only)
The below areas are the required subheadings that must be included within your paper.
History: A history (historical perspective) of the topic (one to two pages). The history portion of the paper should be brief and relevant to the purpose of the paper (Written in third person, Times New Roman, 12 font only).
Epigenetic Causes: A detailed explanation of the epigenetic (genetic and environmental) etiology (cause) of the chosen topic (one to two pages) (Written in third person, Times New Roman, 12 font only).
Symptoms and treatments: A detailed discussion of the symptoms and biological/genetic treatments of the chosen topic (two to four pages) (Written in third person, Times New Roman, 12 font only).
Evaluation: A critical evaluation and summation of three current (no older than five years) research articles on the chosen topic (one to two pages) (Written in third person, Times New Roman, 12 font only).
Synthesis: Brief synthesis and conclusion of the material presented (one page) (Written in third person, Times New Roman, 12 font only).
This is a formal paper (not a list of responses, numbered points, or bullet-points) in APA format (6th ed. - Times new Roman 12 font, 6-8 pages in length (not counting title page, abstract, reference page and Annotated Bibliography), the use of five or more references is required (other than the textbook and website), and it must reflect the use of course content and critical thinking.
You must include an APA formatted title page that includes:
Student's name
Course name and number
Title of paper
Instructor's name
Date submitted
You must include an introductory paragraph with a succinct thesis statement.
You must address the topic of the paper with critical thought.
You must conclude with a restatement of the thesis and a conclusion paragraph.
You must use APA style as outlined in your approved APA style guide to document all sources.
You must include, on the final pages, a reference page followed by an annotated bibliography that is completed according to APA style as outlined in your approved APA style guide.
Do NOT include quotes as they do not add to the critical analysis of the content.
Do NOT write in short (1-3 sentence) paragraphs.
Do NOT include bullet points or numbered items.
Do NOT include research older than 5 years.
All images and tables belong in the Appendix section of the paper (after the Annotated Bibliography) and are not considered part of the body content.
Do include citations in your paragraphs.
Explanation & Answer
Attached.
Running Head: TURNER’S SYNDROME
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Turner's Syndrome
Name
Tutor
Course
Institution
Date
TURNER’S SYNDROME
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Introduction
Different diseases affect a specific group of people only. Such conditions generate a high
interest in health-related research to understand the reasons for their developmental pattern. The
majority of studies may focus on understanding the origins of the complications that would help
understand why the condition develops to a specific group and not all people. An example of this
disease or condition is Turner's syndrome. Turner syndrome is a disorder that only affects young
and older females (Yuan & Zhu, 2020). An in-depth analysis of its background history and
epigenetic factors leading to its development provides clues on its different symptoms and
treatments to help overcome it.
History
Turner's syndrome (TS) or gonadal dysgenesis is a chromosol condition that affects the
normal growth in females because of partial or complete X chromosome monosomy. The
complete or partial X chromosomes lead to the development of complications like stunted
growth, increase risk of heart or kidney problems, and infertility. The cases are discovered when
girls are around five years because ovaries start to develop naturally, but complications start to
develop when egg cell starts to die prematurely leading to a degeneration of ovarian tissues
before birth (Yuan & Zhu, 2020). In many cases, girls fail to undergo puberty, especially when
they do not get hormone therapy. Reports show that the condition affects 1 out of 2,500 newborn
females but is common among pregnancies that do not survive the normal terms of pregnancy
like miscarriages and stillbirth (Van den Hoven, Roos-Hesselink, & Timmermans, 2016).
TURNER’S SYNDROME
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Dr.Henry Tuner was the first to use the term Turner's syndrome in 1938 through a
research study involving standard seven with the similarity of unusual physical and
developmental features. Some of the characteristics of the unusual growth were sexual
immaturity, low posterior hairline, short stature, cubitus valgus, and neck webbing (Sperling,
2014). Otto Ullrich evidenced the discoveries of Dr. Henry Tuner through his female patients
experiencing the same conditions. Ullrich's interests grew, making him adopt Bonnevie's study
on malformations of the face, limb bud, and ears and cervical distention of the dissection process
of subcutaneous fetal tissues using fluids of mice. He found out that the fetal lymphatic
obstruction causes some syndromes discussed by Dr. Tuner and neck webbing signs, thus
developing the eponym Bonnevie-Ullrich concept to capture this discovery (Sperling, 2014). It
was Ulrich's contribution that led to increased interest in these abnormalities in the female with
significant studies done in the 1940s leading to the association of Turner's syndrome and the sex
chromosol abnormalities by Paul Polani and his colleagues in 1954 (Yuan & Zhu, 2020).
Epigenetic Causes
There is four primary genetic alternation process associated with the development of turn
syndrome, monosomy, X chromosome abnormalities, Y chromosome abnormalities, and
Mosaicism. Current research studies report that chromosomal abnormalities cause epigenetic
changes. There are two hypotheses of X monosomy that are linked to epigenetic mechanisms.
The first one suggests that the differential DNA methylation changes have been reported in
specified groups of the downstream target genes, especially in several clinical and metabolic
pathways of autosomal chromosomes (Álvarez-Nava, & Lanes, 2018). According to the research
article of Álvarez-Nava, & Lanes (2018), they explain the epigenetic origins of X monosomy by
TURNER’S SYNDROME
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linking chromosomal heteromorphisms in different heterochromatic regions to chromosomal
malsegregation. There is a possibility that it compromises the precision of the replication
processes and spindle attachments. The reason is that it causes the development of large blocks
of heterochromatin between the homologous chromosomes that cause asynchronous replication
that finally leads to nondisjunction and misalignment (Thrasher et al., 2016). Another
assumption of X monosomy originality suggests that over 100 genes can provoke the
chromosomal segregation when muted. The alteration of the chromosomal segregation in turn
results to cause cell cycle checkpoint defects, mitotic spindle alterations, non-separation of sister
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