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