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. 2014 May 30;15:63. doi: 10.1186/1471-2350-15-63

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Copyright © 2014 Vaccari et al.; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), 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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Identification of a de novo chromosome 11q12.3 deletion in MZ twins with Poland Syndrome. A) Array-CGH profile of chromosome 11 deleted segment. B) qPCR results for a region encompassed by the deletion (specific for the HRASLS5 gene), a 5′ flanking region (specific for SLC22A gene), and a 3′ flanking region (specific for PLA2G16 gene) obtained in the proband and one control individual. The copy number changes were calculated using the comparative DDCt method. Fold change of about 1 is expected for a diploid sample, and of about 0.5 for a haploid sample. C) Screenshot of chromosome 11 corresponding to the genomic position (chr11:63,216,306-63,342,369, NCBI build 37). Patient chromosome deletion (upper red bar), RefSeq genes, and Copy number variations (based on DGV, filtered to show only deletions) in the studied region.