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.