NIPBL and Cornelia de Lange syndrome: This aCGH study of 50 probands including patients fulfilling CdLS diagnostic criteria and those not completely fulfil the criteria [4], and negative for mutations at the NIPBL and SMC1A loci, led to the detection of four carriers of large genomic imbalances that are candidates to explain the clinical phenotype and represent a fraction (8%) of patients with features overlapping those of CdLS.