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Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

SALDARRIAGA, Wilmar; MOLINA-BARRERA, Laura Camila  y  RAMIREZ-CHEYNE, Julián. Sotos syndrome diagnosed by comparative genomic hybridisation. Rev. chil. pediatr. [online]. 2016, vol.87, n.4, pp.288-292. ISSN 0370-4106.  http://dx.doi.org/10.1016/j.rchipe.2015.10.010.

Sotos Syndrome (SS) is a genetic disease with an autosomal dominant pattern caused by haplo-insufficiency of NSD1 gene secondary to point mutations or microdeletion of the 5q35 locus where the gene is located. It is a rare syndrome, occurring in 7 out of every 100,000 births. The objective of this report is to present the case of a 4 year-old patient with a global developmental delay, as well as specific physical findings suggesting a syndrome of genetic origin. Clinical case: Female patient, 4 years of age, thinning hair, triangular facie, long palpebral fissure, arched palate, prominent jaw, winged scapula and clinodactilia of the fifth finger both hands. The molecular test comparative genomic hybridisation test by microarray was subsequently performed, with the result showing 5q35.2 q35.3 region microdeletion of 2,082 MB, including the NSD1 gene. Conclusion: Finally, this article also proposes the performing of comparative genomic hybridisation as the first diagnostic option in cases where clinical findings are suggestive of SS.

Palabras clave : Overgrowth syndrome; NSD1 gene; 5q35 deletion; Comparative genomic hybridisation; Mental retardation.

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