The genetic case study of Prader-Willi syndrome

This paper assesses the case study of Prader-Willi Syndrome and its genetic factors. Prader-Willi Syndrome is a complex, rare genetic disorder that results in either a deletion of the paternal’s chromosome or two non-deleted maternal chromosomes. Signs and symptoms of the disorder are obesity, short height, small hands, feet and genitalia, mentally and physically disability and aggressive behavior. Several studies found that a deletion in chromosome 15, particularly the locus at 15q11q13 plays a role in Prader-Willi. Furthermore, there are several suspected genes that contribute to certain behavioral and physical aspects of the disorder such as the UBE3A gene that’s associated with two non-deleted, methylated maternal chromosomes and silencing the paternal chromosome.

Disclaimer: The purpose of writing this paper is to fulfill course requirements for BBH 411W and to stand as a personal writing sample, but the findings should not be treated as generalizable research.

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Work Title The genetic case study of Prader-Willi syndrome
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Open Access
Creators
  1. Ramon, Jennifer Ubiadas
Keyword
  1. Case study
  2. Prader-Willi Syndrome
  3. Genetics
License Attribution-NonCommercial-NoDerivs 3.0 United States
Work Type Report
Publication Date April 22, 2016
Deposited April 22, 2016

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  • Added Creator Ramon, Jennifer Ubiadas
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