QuestionQuestion

Essay
Write an essay on a human disorder involving chromosomal abnormalities, including discussion of the ethics involved in diagnosing the disorders.
Be sure to structure your work appropriately and include: the underlying genetics of your chosen disorder; the molecular and functional consequences of the aberration; the clinical presentation; and the diagnosis and management of the condition. Include as much scientific and molecular detail as possible. Your reference material at this level should include up-to-date journals. The main content of the essay should be around 1300 words, and then around 200 words on the ethical dimension.
Create all figures that you include yourself. Hand-drawn figures and figures created using a computer program are equally acceptable. If you figure is adapted from an existing source, be sure to reference the source appropriately. Minimum and maximum numbers of figures are not given; use your judgement to create a suitable balance between text and figures.
Word limit: 1500 words. This word limit does not include references, titles, figure legends, tables or figures.

Essay guidelines:
• Your essay must be written in your own words and style, and should be no more than 1500 words in length. Essays that are significantly over length will be penalised.
• Your essay must have an original title that encapsulates the ideas that you are presenting.
• Your subject-matter must be at the cutting edge of medical genetics, and thus should include at least ten references from peer reviewed journal papers including four from the last four years.
• You are strongly advised to make sensible use of figures and tables. These should reflect your own specific requirements and, if they are adapted from published figures or tables, you must acknowledge your sources. Tables and figure legends do not contribute to the overall word-count.
• The type of reader you should have in mind is someone already having a good general knowledge of the subject area. Such a person will be hoping for an interesting, and original, presentation of mostly familiar material. Anything extra will be a bonus. Try to avoid including anything very basic.
• You should make a search of the scientific literature for suitable material and use a wide range of appropriate sources; use Medline/Pubmed - you will find them invaluable. Your essay should be fully referenced in Harvard style.

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Males who are living with an extra chromosome – Klinefelter syndrome

Introduction
Klinefelter's syndrome is a chromosomal aberration, aneuploidy, which occurs exclusively in the male population. The cause of this syndrome is an additional chromosome X. The genotype of men who have syndrome is 47, XXY, 48, XXXY or 49, XXXXY. The most common genotype is 47, XXY with 80-90% (Vockel et al, 2019). This syndrome was first described in 1942 by endocrinologist Harry F. Klinefelter, but not until 1959 the cause of this syndrome wasn’t discovered to be an extra X chromosome. There is a spectrum of phenotypic presentation of this syndrome from no symptoms to severe systemic diseases and cognitive retardation (Wikström and Dunkel, 2011).

Genotype of Klinefelter Syndrome

The cause of this genotype is the incorrect separation of the sex chromosomes in the meiosis stage during the formation of oocytes and sperm so that this syndrome isn't inheritable. Extra-chromosome formation in oocytes is nondisjunction during anaphase meiosis I and meiosis II. In meiosis I, homologous chromosomes are nondisjunction, and in meiosis II, sister chromatids are nondisjunction (Bonomi M. et al, 2017). Fertilized with a normal sperm that carries only the Y chromosome the genotype of Klinefelter syndrome is produced. In the gametogenesis of spermatozoids, nondisjunction of homogenous chromosomes occurs in meiosis I, the sperm will carry an extra X chromosome that will form with a normal egg a genotype XXY. Mosaicism with genotype 46, XY / 47, XXY is present in 10-20% of diagnosed Klinefelter syndromes...
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