title: Novel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-optic dysplasia.
abstract: We report the unique CNS findings in a patient with a proximal chromosome 14q interstitial deletion. Conventional MR imaging allowed the clear delineation of agenesis of the corpus callosum, SOD, and diffuse lissencephaly. DTI tractography played a significant role in the evaluation of the proximal 14q deletion-associated abnormalities, delineating the extent of the dysmorphic connections of the Probst bundles and clarifying that apparent areas of heterotopias were the corticospinal tracts.
authors.affiliation: Department of Radiology, Creighton University, School of Medicine, Omaha, Nebraska, USA. erincockson@creighton.edu
authors.forename: E K
authors.initials: EK
authors.lastname: Bravo
authors.forename: M L
authors.initials: ML
authors.lastname: White
authors.forename: A H
authors.initials: AH
authors.lastname: Olney
authors.forename: J L
authors.initials: JL
authors.lastname: McAllister
authors.forename: Y D
authors.initials: YD
authors.lastname: Zhang
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000235:genetics; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D056324:Diffusion Tensor Imaging; D006801:Humans; D007223:Infant; D054082:Lissencephaly / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D025962:Septo-Optic Dysplasia / Q000175:diagnosis* / Q000235:genetics