The duplication notably did not affect WHSC1 or WHSC2. Duplication, instead of deletion, as a cause of WHS has been described elsewhere (Hannes et al., 2010), but as Cyr et al. points out, this earlier-reported duplication did in fact encompass WHSC1 in addition to other genes such as TACC3, and so it seemed unclear which genes within the duplicated region accounted for the observed phenotype. The gene discussed is NSD2; the disease is Wolf-Hirschhorn syndrome.