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. 2014 Jul 24;1:14001. doi: 10.1038/hgv.2014.1

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Copyright © 2014 The Japan Society of Human Genetics

This work is licensed under a Creative Commons Attribution 3.0 Unported License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/3.0/

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Brain magnetic resonance imaging (MRI) findings of new patients with Xq28 duplications. Sagittal T1 (up) and axial T2 (bottom)-weighted images are shown. All patients showed hypoplasia of the corpus callosum and T2 signal high intensities in the deep white matter. Three patients (other than patient 8) showed atrophies of the cerebellum and bilateral dilatations of the lateral ventricles, indicating age-dependent progression. Patient 3 showed a translucent septal defect, and patients 5 and 8 showed a verga cavity.