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.
|Work Title||The genetic case study of Prader-Willi syndrome|
|License||Attribution-NonCommercial-NoDerivs 3.0 United States|
|Publication Date||April 22, 2016|
|Deposited||April 22, 2016|
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