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. 2019 Jan 4;7(2):e00507. doi: 10.1002/mgg3.507

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© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Schematic representation of chromosome 22. (a) The region of interest is shown by a red box on the ideogram of the chromosome. The eight low copy repeat (LCR) sequences located at 22q11.2 are depicted as black boxes (LCR22A‐H). Critical genes are shown and the central 22q11.2 region located between LCR22B and LCR22D. (b) Schematic representation of chromosome 22 duplications identified in patients in this study, reported in the literature and the DECIPHER database (with clinical information and only one CNV). All duplications are located between LCR22B and LCR22D and represented by a horizontal blue line. RefSeq genes in the region are shown. Data based on UCSC Genome Browser 2009 (GRCh37/hg19) Assembly [http://www.genome.ucsc.edu]