Fig. 2 | Genetics in Medicine

Fig. 2

From: Deletion of chromosome 21 disturbs human brain morphogenesis

Fig. 2

MRI and computed tomography (CT) images of three cases with partial monosomy 21. A–D, MRI for case 1 at 2 years of age. A, Coronal MRI section showing polymicrogyria (thin arrow), left colpocephaly (thick arrow), and hypoplasia of vermis (arrowhead). B, Coronal section showing hypoplasia of the corpus callosum (thin arrow) and cortical dysplasia (thick arrow). C, Sagittal view showing occipital polymicrogyria (thin arrow). D, Sagittal view showing hypoplasia of the corpus callosum (thin arrow) and vermis of the cerebellum (thick arrow). E–H, MRI for case 2 at 1 year. E and F, Sagittal views show severe hypoplasia of the corpus callosum (thick arrow), occipital polymicrogyria (arrowhead), and a normal cerebellum and brain stem (thin arrow). G and H, Coronal sections showing cortical dysplasia, mainly pachygyria (thick arrow) and hypoplasia of the white matter (thin arrow). I–L, Cranial CT for case 3 at 2½ years of age (axial sections). I and J, Generalized cortical dysplasia. I, Polymicrogyria (thick arrow), hypoplasia of the corpus callosum (thin arrow), and atrophy of the cerebellum (arrowhead). J, Hydrocephalus ex vacuo (thin arrow). K and L, Hypoplasia of the white matter (thick arrow) and severe cortical dysplasia (thin arrow), more pronounced in the frontal and parietal than in the occipital areas.

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