OFD1 and TRAPPC2 are integral to a CNV on Xp22.2 (duplication with breakpoints from 13415099–13745233) identified by Agilent 105 k array (Figure One in Rajcan-Separovic et al. [12]) in female 09–1 who had 6 miscarriages (current paper, Additional file 1: Table S1). The gene discussed is OFD1; the disease is spontaneous abortion.