Case presentation
A 2-month-old Caucasian male (proband, IV-3 in Figure 1) was referred for genetic testing due to a duplication of DMD exons 1-7 identified in his mother (III-6 in Figure 1) during prenatal carrier screening by an outside laboratory; the duplication was classified as pathogenic by that laboratory. Proband was born at 39 weeks gestation by cesarean section; upon birth he presented with jaundice, mild erythema toxicum neonatorum, and neonatal hypoglycemia that resolved with feeding. His CK levels at two months of age were 324 U/L. His mother is a 33-year-old P1G1 Caucasian female with a history of infertility. She presented with gestational hypertension without evidence of preeclampsia during pregnancy and had normal electrocardiogram results after prenatal screening follow-up for potential cardiovascular disorders conferred by the detected DMD duplication. There is no family history of musculoskeletal concerns or cardiomyopathy for either of proband’s parents.