[Chromosome 7q11.23 duplication syndrome. First reported case in Latin America].

Autor:	Ruiz Botero F; Centro de Investigación en Anomalías Congénitas y Enfermedades Raras (CIACER), Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia. Fruiz@icesi.edu.co., Saldarriaga Gil W; Departamento de Morfología, Facultad de Salud, Universidad del Valle, Cali, Colombia.; Grupo de Malformaciones Congénitas (MACOS), Hospital Universitario del Valle, Cali, Colombia., Isaza de Lourido C; Departamento de Morfología, Facultad de Salud, Universidad del Valle, Cali, Colombia.; Grupo de Malformaciones Congénitas (MACOS), Hospital Universitario del Valle, Cali, Colombia.
Jazyk:	Spanish; Castilian
Zdroj:	Archivos argentinos de pediatria [Arch Argent Pediatr] 2016 Feb; Vol. 114 (1), pp. e1-4.
DOI:	10.5546/aap.2016.e1
Abstrakt:	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.)
Databáze:	MEDLINE
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