Molecular characterization and reclassification of a 1.18MbpDMD duplication following positive carrier screening for Duchenne/Becker Muscular Dystrophy
Cinthya J Zepeda-Mendoza1, Jordan E Bontrager2, Camille F Fisher3, Amber McDonald2, Jaya K George-Abraham3, Linda Hasadsri2
1Cytogenetics and Genomic Microarray Laboratory, ARUP Laboratories, Salt Lake City, UT. 2Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN. 3Dell Children’s Medical Group, Austin, TX