Abstract

RUIZ BOTERO, Felipe; SALDARRIAGA GIL, Wilmar  and  ISAZA DE LOURIDO, Carolina. Chromosome 7q11.23 duplication syndrome: First reported case in Latin America. Arch. argent. pediatr. [online]. 2016, vol.114, n.1, pp.e1-e4. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2016.e1.

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.

Keywords : Chromosome 7q11.23 duplication syndrome; WilliamsBeuren region duplication syndrome; Williams syndrome; Array comparative genomic hybridization, Colombia.

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