To view the full text, please login as a subscribed user or purchase a subscription. Click here to view the full text on ScienceDirect. Fig. 1 Predictive value of models representing different combinations of signs, symptoms and instrumental findings. Highlights •This is the first attempt to validate the diagnosis of Dup15q syndrome. •Concordance among experts on the diagnosis is at best moderate. •Feeding difficulties, hypotonia and epilepsy can be diagnostic markers.
