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. 2015 Mar 26;8:21. doi: 10.1186/s13039-015-0123-x

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© Melo et al.; licensee BioMed Central. 2015

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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Molecular cytogenetic analysis. (A) Array CGH comparative profile for chromosome 19 disclosing the 19q13.12 deletion. (B) Zoom in of the deleted region detected by array CGH. (C) Zoom in of the CNV profile of the deleted region according to the Database of Genomic Variants (DGV). (D) MLPA analysis result of the proband and progenitors (SALSA Probe MLPA – P347-A1) confirming a de novo deletion of the probes corresponding to the deletion observed by array CGH.