Fig. 1.

Overview of the study design and MR imaging shows cortical deficits in carriers of the chr16p13.11 duplication. a Schematic summary of the study. b Coronal and sagittal MRI views demonstrate significant volume reduction of cortical brain tissue in an affected carrier of the 16p13.11 microduplication (case 1) evident in both the coronal (areas of significant cortical volume reduction are marked by red arrows) and sagittal views. Representative scans are also shown from an in-family control (control 1) and from an age and gender matched participant in the Scottish Mental Health Research study (SFMH) control group. Representative MRI images are also shown for case 3. Case 2 was unable to tolerate the MR scan due to extreme anxiety and agitation. c Global cortical thickness measures show significant differences between case 1 and a group of 41 control individuals from the SMHR study. Significance testing on the differences between case 1’s score and the SFMH control sample are as follows based on N-of-1 statistics [67]: control sample t = −2.305; one-tailed probability = 0.013; two-tailed probability = 0.026. Estimated percentage of normal population falling below individual's score = 1.32%. 95% lower confidence limit on the percentage = 0.17%. 95% upper confidence limit on the percentage = 4.14%. The value for mean global CT is also marked in this graph for case 3. d Temporal lobe cortical thickness measures show significant differences between cases 1 and 3 and a group of 41 control individuals from the SMHR study