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. 2013 Nov 14;2(2):115–123. doi: 10.1002/mgg3.48

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© 2013 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Breakpoint analysis of the duplication of NIPBL exons 23–27 in Patient 8. (A) Array-CGH results revealed a duplication of NIPBL exons 23–27; (B) MLPA histogram: NIPBL exons arrowed in red (23–27) showing increased height ratio (∼1.4 vs. 1); (C) schematic diagram of the duplicated region with dashed square boxes representing the exons duplicated in tandem. Arrow heads indicate the location of PCR primers used to amplify the breakpoint junction of the duplication; (D) Nucleotide sequence of the breakpoint revealing insertion (purple) of seven nucleotides (ATATAAT) and 1bp-microhomology (dash box) at the breakpoint junction; (E) Photo of Patient 8 taken at two weeks of age.