Chromosome Microarray Analysis Detection of a Single Exon Deletion of the Duchenne Muscular Dystrophy Gene in a Fetus: a Case Report

Background: Amniocentesis was performed on a pregnant woman with a deletion of exon 45 of the Duchenne Muscular Dystrophy (DMD) gene. Methods: Fetal Xp21.1 (31944831-32030363) x 0 was found by chromosome microarray analysis (CMA), i.e., 0.086 Mb hemizygote deletion was detected in the Xp21.1 region of the fetal X chromosome, which contained exon 45 of the DMD gene. Results: The results verified by MLPA were consistent with those of CMA, which indicated that CMA was accurate in a single exon deletion in this fetus. This case suggests that CMA may become an essential method for the prenatal diagnosis of a fetus with DMD gene deletion/duplication. Conclusions: It can routinely detect chromosome copy number variation and analyze DMD diseases caused by exon duplication or deletion, which is enormously significant for new DMD exon deletion or duplication.