Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Citations 12
Molecular characterization and reclassification of a 1.18 Mbp
DMD
duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
Clinical Case Reports | July 11, 2022 | Volume: 10 | Issue: 7 | Pages: No page available
Abstract A 2‐month‐old male patient harboring a duplication of DMD exons 1–7 classified as pathogenic by an outside institution presented with mildly elevated creatine phosphokinase (CK); molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues to develop normally with decreased CK, further supporting our reclassification.
Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia
Clinical Case Reports | December 11, 2020 | Volume: 9 | Issue: 2 | Pages: 769-774
AbstractThis case report underlines the importance of molecular characterization of genomic duplications and other structural variants in the prenatal setting to guide clinical interpretation, genetic counseling, and perinatal medical care.