Fig. 1

Overview of all terminal and subterminal 6p deletions. Deletions from our parent cohort (red bars) and literature cohort (black bars) are divided into six subgroups (A‒S). A: Terminal deletion not including FOXC1 (breakpoint distal to 1.61 Mb), B: terminal deletions including FOXC1 and not including TUBB2A (breakpoint between 1.61 and 3.15 Mb), C: terminal deletions including TUBB2A and not including PRPF4B (breakpoint between 3.15 and 4.02 Mb), D: terminal deletions including PRPF4B and not including RREB1 (breakpoint between 4.02 and 7.11 Mb), E: terminal deletions including RREB1 (breakpoint proximal to 7.11 Mb) and S: subterminal 6p deletions (distal breakpoint proximal to 0.35 Mb and including at least part of FOXC1). The literature cases were derived from 28 reports [2, 4,5,6,7,8, 21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42]. All deletions are visualised using the UCSC genome browser (GRCh37/hg19) (https://genome.ucsc.edu) [13]. Minimum and maximum breakpoints of deletions are visualised, when available (smaller bars, for coordinates see Additional file 1: Table S1). The literature case of Linhares et al. also has a duplication (indicated by a white bar)