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Article

Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome

18 May 2018

Abstract excerpt

INTRODUCTION: Prader-Willi syndrome (PWS) is a complex genetic disorder associated with three different genetic subtypes: deletion of the paternal copy of 15q11-q13, maternal UPD for chromosome 15 and imprinting defect. Patients are typically diagnosed because of neonatal hypotonia, dysmorphism and feeding difficulties; however, data on the prenatal features of PWS are limited. OBJECTIVE: The aim of the study was...

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PMID: 29776967
DOI: 10.1136/jmedgenet-2017-105118

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