A Clinical Genetics-Driven Dual Diagnosis of Prader–Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL
Maternal uniparental disomy of chromosome 15 [UPD(15)mat] and imprinting defects account for about 30% of cases of Prader–Willi syndrome (PWS). Mosaic UPD(15)mat is rare and may escape routine testing. We describe a 45-year-old male patient in whom persistent clinical suspicion of PWS was not genetically confirmed by r...