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(A) Patient’s pedigree. A recessive trait was initially suspected on the basis of the parental consanguinity with recurrence in the offspring. The proband’s father (individual III.3) was a carrier of a balanced chromosomal translocation. (B) Transverse FLAIR image. Notice the white matter volume loss (asterisk). (C) Sagittal T1 weighted image showing thin corpus callosum (arrowhead) and pontine hypoplasia with dysgenesis of the cerebellar vermis (arrow).
