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)
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

@article{a94b72318da64e73abbb751617118843,
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.",
author = "Bravo, {Erin K.} and White, {Matthew L} and Olney, {A. H.} and McAllister, {Janice L} and Zhang, {Y. D.}",
year = "2012",
month = "2",
day = "1",
doi = "10.3174/ajnr.A2745",
language = "English (US)",
volume = "33",
journal = "American Journal of Neuroradiology",
issn = "0195-6108",
publisher = "American Society of Neuroradiology",
number = "2",

}

TY - JOUR

T1 - Novel proximal 14q deletion

T2 - Clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-optic dysplasia

AU - Bravo, Erin K.

AU - White, Matthew L

AU - Olney, A. H.

AU - McAllister, Janice L

AU - Zhang, Y. D.

PY - 2012/2/1

Y1 - 2012/2/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84863135998&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84863135998&partnerID=8YFLogxK

U2 - 10.3174/ajnr.A2745

DO - 10.3174/ajnr.A2745

M3 - Article

VL - 33

JO - American Journal of Neuroradiology

JF - American Journal of Neuroradiology

SN - 0195-6108

IS - 2

ER -