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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report

Fig. 1

a GTG-banding chromosomes 3 and 5 and FISH nucleus assay. Black arrows show chromosome breakpoints on 3p26.3 and 5q14.3. A1. DAPI counterstain (blue). A2. Whole chromosome 3 painting probe (red). A3. Whole chromosome 5 painting probe (green). A4. Merging of A1, A2 and A3. b Predicted Hi C maps of der(5) from GM12878 cell line experiment (Liebermann -raw 10 kb) resolution. Black dashed line, yellow and grey bars represent predicted TAD. Blue genes & arrow are in chromosome 5 and green genes & arrow are in chromosome 3. CTCF sites are from ENCODE [13] data. c Expression of MEF2C gene in the patient’s lymphoblastoid cell lines (blue box) and three normal controls (green boxes), all assay were 3-times repeated, Y-axis shows the MEF2C RNA quantification normalized with the β-2 microglobulin housekeeping gene, ***: p < 0.001, One-way ANOVA with post-hoc Tukey HSD Test)

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