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
| Autor: | Matthew L. White, Erin K. Bravo, Yan Zhang, A. H. Olney, Janice L McAllister |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Pathology medicine.medical_specialty Lissencephaly Case Reports Septo-Optic Dysplasia medicine Humans Radiology Nuclear Medicine and imaging Abnormalities Multiple Agenesis of the corpus callosum Dti tractography Chromosomes Human Pair 14 business.industry Infant Septo-optic dysplasia medicine.disease Mr imaging Diffusion tensor imaging tractography Diffusion Tensor Imaging Neurology (clinical) Agenesis of Corpus Callosum Chromosome Deletion business Diffusion MRI |
| Zdroj: | AJNR Am J Neuroradiol |
| ISSN: | 1936-959X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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