Figure 2.

Enlarged ventricles and other abnormalities in patients with TP53BP2 deletions. (a) Summary of the patient records analysed in this study. (b) Quantification of lateral ventricle volume by probabilistic morphometry. Volumes were computed by ALVIN on all suitable scans in each MRI series, from 1q41q42 microdeletion patients with and without TP53BP2 deletion. Left panel – T1 and T2 sagittal, axial and coronal scans were used for computations of LV volumes, bars showing mean±S.D.; right panel – T1 axial scans used only, each data point showing the mean from T1 axial scans for each patient. MRI scans of 12 patients and a group of 28 healthy paediatric individuals (NIH controls) were used. Median age of microdeletion cohort=19 months, median of NIH controls=15 months. For statistical comparison of LV volumes in patient groups, values were first tested for normality by the D'Agostino and Pearson omnibus test, then compared to NIH controls using the two-tailed Student's t-test and corrected for multiple hypothesis testing by multiplying the P-value by the number of tests. Mean±S.D. are shown. (c) Axial and sagittal MRI images of brains of 1q41q42 microdeletion patients. T1 non-contrast images are shown, except for cases where only T2 scans were available (Rosenfeld Subject 14, Spreiz et al.²⁴ and Case 7). Double white arrowheads: hypoplasia of corpus callosum; single white arrowheads: asymmetry in lateral ventricle size; asterisk: mega cisterna magna