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. 2014 Nov 26;9:181. doi: 10.1186/s13023-014-0181-x

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© Silveira et al.; licensee BioMed Central Ltd. 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Array-CGH profile showing loss at 9p13.1-p12 was confirmed by qPCR for CNTNAP3 gene. (A-B) 9p13.1-p12 loss was the unique novel CNV shared by the Twin-1 (A) and Twin-2 (B). Scatter plots with x-axis coordinate representing the probes positions along the genome. The low bars (red) indicate losses of genomic regions. The images were adapted from the Nexus 7.5 software. (C) Relative quantification of CNTNAP3 copy number alterations evaluated by qPCR. Normal DNA copy number (two copies) was found in the controls and parental blood. Losses were found in peripheral blood and tumor cells from twins. Image obtained from Graphpad Prism 5 (Graphpad Software Inc., La Jolla, CA).