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. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Clinical and genetic description of the cohort. a Spider plot of the clinical profile of the patients with PMS as a percentage of cases having each feature over those tested. b Mechanisms and inheritance of identified 22q13 CNVs in the cohort. ABCR apparently balanced chromosomal rearrangement, der(22) derived from unbalanced reciprocal translocation, ring(22) caused by a ring chromosome 22