Current Pediatric Research

Generalized clinical use of Chromosomal Microarray Analysis (CMA) in etiological investigation of neurodevelopmental disorders, has led to the decipherment of many new copy number variations (CNV), such as those in 16p13.11. We report detailed phenotypic and molecular characterization of four patients with duplications and four patients with deletions in 16p13.11.We found partially overlapping CNVs of different sizes with varied clinical presentation. Patients presented with Intellectual Disability (ID), Autism Spectrum Disorder (ASD) and behavioral abnormalities. Dysmorphisms and skeletal manifestations were seen in patients with duplications. Our report further delineates the phenotypic spectrum associated with 16p13.11 CNVs. The genes implicated in the region and their potential contribution to the phenotype is discussed with special attention to the yet not fully known C16orf45.

Author(s): Susana Loureiro, Joana Almeida, Cátia Café, Inês Conceição, Susana Mouga, Ana Beleza, Bárbara Oliveira, Joaquim de Sá, Isabel Carreira, Jorge Saraiva, Astrid Vicente, Guiomar Oliveira

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