16p13.3 microduplication syndrome: A new characteristic case without intellectual disability

Interstitial 16p13.3 microduplication, encompassing the CREBBP gene, is now considered a well recognizable syndrome. To date, 28 patients have been reportedwith a 16p13.3 microduplication. The majority of the patients share a similar phenotype which is mainly characterized by typical facial dysmorphisms and variable intellectual disability. Other features include microcephaly, growth retardation, limb anomalies and defects of the brain, heart, genitalia, palate and eyes. We report on a de novo microduplication of chromosome 16p13.3 revealed using array-comparative genomic hybridization (array-CGH) technology in a patient presenting with variable congenital anomalies and typical facial dysmorphisms, but with no evidence of developmental delay. This case highlights the importance of an accurate clinical examination and the utility of array-CGH in pediatric patients with a characteristic phenotype but without intellectual disability. (C) 2016 Elsevier Inc. All rights reserved.