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. Issue 7 (3rd June 2013)

• Record Type: Journal Article
• Authors: Sollie, Annet; Sijmons, Rolf H.; Lindhout, Dick; van der, Ans T.; Rubio Gozalbo, M. Estela; Smit, G. Peter A.; Verheijen, Frans; Waterham, Hans R.; van, Sonja; Wijburg, Frits A.; Wijburg, Rudolph; Visser, Gepke
• Is Part Of: Human mutation. Volume 34:Issue 7(2013:Jul.)
• Page Start: 967
• Page End: 973
• Publication Date: 2013-06-03
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22316
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22316-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We report the molecular characterization of a complex duplication‐triplication rearrangement involving exons 45–60 of the <italic>DMD</italic> 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 <italic>DMD</italic> DUP‐TRP/INV‐DUP event. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg224gz4qj" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>