title: Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.
abstract: The 16p12 region is particularly prone to genomic disorders due to the large number of low copy repeats [Martin et al., 2004; Nature 432:988-994]. We report two unrelated patients with de novo triplication of 16p12.1p12.3 who had developmental delay and similar facial features. Patient 1 is a 4-year-old male with a congenital heart anomaly, bilateral cryptorchidism, chronic constipation, and developmental delay. Patient 2 is a 12-year-old female with prenatally diagnosed hydronephrosis, hepatobiliary disease, failure to thrive, and developmental delay. Distinctive facial features common to both patients include short palpebral fissures, bulbous nose, thin upper vermillion border, apparently lowset ears, and large ear lobes. We compare the clinical manifestations of our patients with a previously reported patient with triplication of 16p12.2.
authors.affiliation: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario.
authors.forename: Graeme A M
authors.initials: GA
authors.lastname: Nimmo
authors.affiliation: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario.|Division of Medical Genetics, The Hospital for Sick Children, The University of Toronto, Kingston, Ontario.
authors.forename: Andrea
authors.initials: A
authors.lastname: Guerin
authors.affiliation: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario.
authors.forename: Ramses
authors.initials: R
authors.lastname: Badilla-Porras
authors.affiliation: Department of Pediatric Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto, Ontario.
authors.forename: Dimitri J
authors.initials: DJ
authors.lastname: Stavropoulos
authors.affiliation: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario.
authors.forename: Grace
authors.initials: G
authors.lastname: Yoon
authors.affiliation: Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, The University of Toronto, Toronto, Ontario.
authors.forename: Melissa T
authors.initials: MT
authors.lastname: Carter
mesh_terms: D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D010641:Phenotype; D014314:Trisomy
keywords: abnormalities; chromosome aberrations; chromosomes; developmental disabilities; genomic; human; intellectual disability; language skills disorders; motor skills disorders; multiple; pair 16; segmental duplications