Molecular characterization and reclassification of a 1.18Mbp DMD duplication following positive carrier screening for Duchenne/Becker Muscular Dystrophy

A 2-month-old male harboring a duplication of DMD exons 1-7 classified as pathogenic by an outside institution presented with mildly elevated CK levels; molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues to develop normally with decreased CK levels, further supporting our reclassification.