1. [Chromosome 7q11.23 duplication syndrome. First reported case in Latin America].
- Author
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Ruiz Botero F, Saldarriaga Gil W, and Isaza de Lourido C
- Subjects
- Adolescent, Chromosome Deletion, Chromosomes, Human, Pair 7 genetics, Comparative Genomic Hybridization, Female, Humans, Latin America, Chromosome Duplication, Williams Syndrome diagnosis
- 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., (Sociedad Argentina de Pediatría.)
- Published
- 2016
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