Schematic summary of the reported 19q13.11 microdeletions, according to the human genome assembly hg19 (GRCh37). An ideogram of Chr. 19q12-q13.12 is displayed at the top. The shaded region between the solid black lines represents the MOCR of approximately 324 kb ([hg19] chr19:35,111,811-35,436,076). The solid red line at the left indicates the deletion breakpoint of the patient reported by Forzano et al. ([hg19] chr19:34,957,764-34,983,674) , which affects the last two exons of UBA2. The proximal breakpoint of the male patient reported by Gana et al. ([hg18]chr19:39,608,712-39,626,575) is indicated by a short dotted line; this deletion affects the last 11 exons of UBA2. The gene map is displayed at the bottom, and qPCR validation targets are circled. Patients are numbered according to Table 1, and deletions are indicated with grey (female) and black (male) bars; the size is indicated in parentheses. MXX is a 46,XX male; ϕ, male foetus aborted at the 28th week of gestation.