2007). Cleft palate, which was identified in 2/7 (29%) of patients in our study, is seen in ∼20% of patients with CdLS (Kline et al. 2007). No significant differences were identified in the presence of these features in our patients with NIPBL CNVs and in patients with NIPBL point mutations (Borck et al. 2007; Schoumans et al. 2007). Here, NIPBL is linked to Cornelia de Lange syndrome.