Fig. 2

Fetal brain MRI showing nodules and hyper-intense regions, and nucleotide call from sequencing. a Coronal T2 image showing the presence of a sub-ependymal nodule (yellow arrow, also in b and c) and an arc-shaped white matter signal abnormality (white arrow, also in c). b Axial T2 image showing the presence sub-ependymal nodules and of a hyper-intense region (red arrow, also in c). c Axial T2 image showing a sub-ependymal nodule, a white matter signal abnormality and two hyper-intense regions compatible with the presence of cortical tubers. d Chromatogram and nucleotide call shown for the forward and reverse sequencing of the mutated allele only (DNA obtained from amniotic liquid) for nucleotides 5164 to 5175 of the coding sequence of TSC2 (ENST00000219476.9). The A duplication after position 5169 is highlighted by the red box. e Sanger sequencing chromatogram and nucleotide call for the forward strand of the DNA amplicon obtained from the father sperm shown for TSC2 nucleotides 5164 to 5175 of the coding sequence. No sign of A duplication was observed. f Sanger sequencing chromatogram and nucleotide call for the forward strand of the DNA amplicon obtained from the mother skin biopsy shown for TSC2 nucleotides 5164 to 5175 of the coding sequence. No sign of A duplication was found