In humans, imprinting abnormalities at the DLK1-DIO3 locus have been associated with developmental disorders, such as Temple syndrome, caused by maternal uniparental disomy (MatUPD14) (i.e. patients inherit two maternal copies of chromosome 14q32), and Kagami–Ogata syndrome (PatUPD14), caused by paternal uniparental disomy (reviewed in [36]). This evidence concerns the gene DLK1 and multiple congenital anomalies due to 14q32.2 maternally expressed gene defect.