ESPE Abstracts

Introduction: Temple syndrome (TS14) caused by maternal uniparental disomy chromosome 14 (UPD(14)mat), paternal deletions and the imprinting defect affecting the 14q32.2 imprinted region is associated with non-specific symptoms such as growth failure, precocious puberty, obesity, and diabetes mellitus (DM). Some TS14 cases are misdiagnosed as having Prader–Willi syndrome (PWS). In TS14, patient’s intelligence quotient (IQ) is usually normal, and autism spectrum disor...