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Fig. 1 | BMC Medical Genetics

Fig. 1

From: Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review

Fig. 1

The typical phenotype and laboratory results. The patient at 8 months of age showed severe microcephaly (a). MRI showed the agenesis of the corpus callosum, enlargement of the posterior lateral ventricles, and a simplified gyral pattern of the cerebral cortex (b). The Diagram of chromosome 16 and the 1.22 M microdeletion on 16p13.11 in the patient detected by CMA (c and d). The NDE1 sequence chromatogram of the patient and his parents, and arrows show the 2 base-pairs changes (e)

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