Prader-Willi Syndrome: A Case Report
Journal Title: Public Health – Open Journal - Year 2016, Vol 1, Issue 1
Abstract
Prader–Willi Syndrome (PWS) is a rare multi-systemic genetic disorder, in which 7 or some subset of genes on chromosome 15 are unexpressed or deleted on the paternal chromosome, resulting from failed expression of paternally inherited genes on chromosome 15q11–13. The majority of individuals with PWS (70%) have a paternally derived deletion of 15q11–13, Twenty-five percent have maternal disomy of chromosome 15 (an absence of the normally active paternally inherited genes on the long arm of chromosome 15) and 2-5% have imprinting defects (certain genes or groups of genes are expressed differently depending on the gender of the parent from which they were inherited).
Authors and Affiliations
Erika Tayal
Keywords
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- EP ID EP555311
- DOI 10.17140/PHOJ-1-104
- Views 129
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