Skip to main content
Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

Fig. 1

Overview of all terminal 6q deletions and interstitial 6q26q27 deletions. Deletions from our parent cohort (black bars) and literature cohort (grey bars) are shown, and their minimum (thick bar) and maximum (thin bar) deletion size are visualised when available. For breakpoint coordinates see Additional file 1: Table S1. The terminal deletions are divided into eight subgroups (shown on the right hand side) based on the most proximal gene with a predicted haploinsufficiency effect (HI-gene) (vertical light blue lines) involved in the minimum deletion size. T-PSMB1: terminal deletions only including PSMB1 and TBP (breakpoint distal to 170.6 Mb), T-DLL1: terminal deletions including DLL1 (breakpoint between 168.4 and 170.6 Mb), T-AFDN: terminal deletions including AFDN (166.1–168.4 Mb), T-PDE10A: terminal deletions including PDE10A (164.0–166.1 Mb), T-QKI: terminal deletions including QKI (163.1–164.0 Mb), T-PRKN: terminal deletions including PRKN (161.5–163.1 Mb), T-MAP3K4: terminal deletions including MAP3K4 (160.5–161.5 Mb) and T-R (residual group): terminal deletions including IGF2R and larger (breakpoint proximal to 160.5 Mb). Interstitial deletions are divided in two subgroups based on their cytogenetic location: I-6q26: interstitial deletions (mostly) located on chromosome band 6q26 (161–164.5 Mb), I-6q27: deletions located on chromosome band 6q27 (164.5–171.1 Mb). The deletions are visualised using the UCSC genome browser (https://genome.ucsc.edu). The vertical red line marks the location of the common fragile site FRA6E. The literature cases were derived from 29 reports [1, 6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33]. See Additional file 1: Table S1, for details

Back to article page