title: [Chromosome 7q11.23 duplication syndrome. First reported case in Latin America].
abstract: 7q11.23 duplication syndrome is a disease caused by duplication of a region of chromosome 7 comprising 26 genes. The first case described in the literature was reported by Somerville et al. in 2005, who described a patient with dolichocephaly, high and narrow forehead, long eyelashes, high and wide nose, short philtrum, high arched palate, dental malocclusion, retrognathia, and severe language delay. We report the case of a Colombian patient with 7q11.23 duplication by comparative genomic hybridization techniques, and classical clinical findings, this being the first reported case in Colombia and Latin America.
authors.affiliation: Centro de Investigación en Anomalías Congénitas y Enfermedades Raras (CIACER), Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia. Fruiz@icesi.edu.co.
authors.forename: Felipe
authors.initials: F
authors.lastname: Ruiz Botero
authors.affiliation: Departamento de Morfología, Facultad de Salud, Universidad del Valle, Cali, Colombia.|Grupo de Malformaciones Congénitas (MACOS), Hospital Universitario del Valle, Cali, Colombia.
authors.forename: Wilmar
authors.initials: W
authors.lastname: Saldarriaga Gil
authors.affiliation: Departamento de Morfología, Facultad de Salud, Universidad del Valle, Cali, Colombia.|Grupo de Malformaciones Congénitas (MACOS), Hospital Universitario del Valle, Cali, Colombia.
authors.forename: Carolina
authors.initials: C
authors.lastname: Isaza de Lourido
mesh_terms: D000293:Adolescent; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D007843:Latin America; D018980:Williams Syndrome / Q000175:diagnosis*
keywords: Array comparative genomic hybridization; Chromosome 7q11.23 duplication syndrome; Colombia; Williams syndrome; WilliamsBeuren region duplication syndrome