Extended Data Fig. 9: Neuroimaging.
From: Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
Brain MRIs from subjects with 1q duplications. a, b, Axial (a) and coronal (b) T2 images of Patient 1 at 13 months demonstrates hazy T2 prolongation involving the right frontal and parietal lobes (dashed circles). c, d, Axial (c) and coronal (d) T2 images of Patient 2 at 5 years of age demonstrate a dysplastic right frontal sulcus (dashed circles). e, f, Axial (e) and coronal (f) T2 images of Patient 3 at 9 months of age demonstrate polymicrogyria in the right frontal lobe and insula (dashed circle). g, h, Axial T1 (g) and axial T2 (h) images of Patient 6 at 14 months demonstrates hazy T1/T2 prolongation involving the inferior left frontal lobe (dashed circles). i, j, Axial T2 (i) and sagittal T1 (j) images of Patient 4 at 9 years of age demonstrate generalized decrease in size of the right hemisphere with a large frontoparietal area of dysplastic cortex (hazy T2 prolongation and increased gyral frequency indicated by dashed circles). k, l, Axial T2 (k) and coronal T2 (l) images of Patient 5 at 5 years of age demonstrate subtle T2 prolongation in the left supramarginal and superior temporal gyri (dashed circles).
