De novo 16p13.3-p12.3 duplication in a child with syndromic developmental delay

16p13.3 duplication is a very rare chromosome alteration that is considered a contiguous gene syndrome, in which CREBBP is the critical gene responsible for the main clinical characteristics, and other genes involved in the region play an additive or modulating role in the phenotype. We report the first case of 16p13.3 duplication syndrome in Latin America in a two-year-old female with developmental delay, epilepsy, heart defects, and dysmorphic abnormalities. After a detailed review of each involved gene in the affected interval, we suggest GRIN2A, ABAT, and miR-484 could explain the neurological profile of the patient.