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

Erin K. Bravo, Matthew L White, A. H. Olney, Janice L McAllister, Y. D. Zhang

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)E16-E18
JournalAmerican Journal of Neuroradiology
Volume33
Issue number2
DOIs
StatePublished - Feb 1 2012

Fingerprint

Septo-Optic Dysplasia
Lissencephaly
Agenesis of Corpus Callosum
Pyramidal Tracts
Diffusion Tensor Imaging
Chromosomes
Lissencephaly and agenesis of corpus callosum

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

Cite this

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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.",
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AU - White, Matthew L

AU - Olney, A. H.

AU - McAllister, Janice L

AU - Zhang, Y. D.

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