Investigation of Prader-Willi-like Phenotype using a Whole Genome Array

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DOI:

https://doi.org/10.66563/srw1k991

Keywords:

PWS phenotype, microarray, copy-number, transcription

Abstract

Prader-Willi syndrome (PWS) is characterised by obesity, short stature, small hands and feet, neonatal hypotonia with difficulty in feeding at birth, hypogonadism, and eye problems. At about two years of age, the feeding difficulties with poor suck are gradually replaced by hyperphagia and obsession with food, leading to obesity. In addition to developmental delay, which is manifested by short stature, small hands and feet, growth hormone deficiency, and hypogenitalism/hypogonadism. There are also behavioural characteristics, including learning disabilities, temper tantrums, aggression, repetitive speech, obsessive-compulsive behaviour, sleep disorder, and skin picking (Cassidy and Driscoll, 2009).

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Published

2012-10-12

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