Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome 15 • Deletion of critical region on 15q11.2-13 gene on paternal chromosome ->Loss of parental copy of 15q11.2-13 ->Disruption of hypothalamus =>Prader-Willi Syndrome Signs/Symptoms/Complications: • Gonadal hypoplasia, microphallus & delayed puberty -> Infertility • Decr Bone mineral density and osteoporosis -> Incr Skeletal fractures • Short stature • Poor suckling -> Neonatal and infantile failure to thrive • Obesity -> Type 2 diabetes, atherosclerosis, sleep apnea, cor pulmonale #PraderWilli #Syndrome #genetics #pathophysiology #peds #pediatrics
