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Annet Sollie, Rolf H. Sijmons, Dick Lindhout, Ans T. van der Ploeg, M. Estela Rubio Gozalbo, G. Peter A. Smit, Frans Verheijen, Hans R. Waterham, Sonja van Weely, Frits A. Wijburg, Rudolph Wijburg and Gepke Visser A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype–Phenotype Data Sharing Human Mutation 34

Article first published online: 3 JUN 2013 | DOI: 10.1002/humu.22316

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We report the molecular characterization of a complex duplication-triplication rearrangement involving exons 45–60 of the DMD gene which shares common genomic organization with the recently described duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) events. Taking into consideration the presence of a predicted PRDM9 binding site in the near vicinity of the junction involving two inverted L1 elements and the inherent properties of X-Y chromosome recombination during male meiosis, we proposed an alternative two-step model for the generation of this X-linked DMD DUP-TRP/INV-DUP event.

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