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

• 16p13.3 microduplication, is a syndrome complementary to the deletion found in severe RTS.
• Is characterized by mild to moderate ID and characteristic facial dysmorphisms.
• We report on a microduplication 16p13.3 in a patient with no evidence of developmental delay.
• Such case can be due to a variable expressivity or it can be related to the young age of the proposita.

Interstitial 16p13.3 microduplication, encompassing the CREBBP gene, is now considered a well recognizable syndrome. To date, 28 patients have been reported with 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.