Background: Congenital cardiac defects are defined in cases with the deletion of the short arm of chromosome 5 and the duplication of the long arm of chromosome 4. Septal defects and patent ductus arteriosus are among the most common defects reported in the literature.
Case: We reported on a case with a complex congenital cardiac defect, dysmorphic facial features, cat-like cry, hypotonia, hyporeflexia, weak swallowing and sucking, limb anomalies, and bilateral undescended testicles. A chromosomal microarray revealed a duplication of chromosome 4q26q35.2 and a deletion of chromosome 5p15.33p14.3, originating from the unbalanced maternal translocation 46, XX t(4;5) (q27;pter). Our patient showed clinical characteristics compatible with both deletion of 5p and duplication of 4q.
Discussion: We reported a case with a rare chromosomal rearrangement. Similarities and differences between the cases in the literature are discussed.
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