title: [Sotos syndrome diagnosed by comparative genomic hybridisation].
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Director, Grupo de investigación en Malformaciones Congénitas Perinatales y Dismorfología (MACOS), Departamento de Morfología y de Ginecología y Obstetricia, Universidad del Valle, Cali, Colombia. Electronic address: wilmar.saldarriaga@correounivalle.edu.co.
authors.forename: Wilmar
authors.initials: W
authors.lastname: Saldarriaga
authors.affiliation: Estudiante de quinto año de Medicina y Cirugía, Universidad del Valle, Cali, Colombia.
authors.forename: Laura Camila
authors.initials: LC
authors.lastname: Molina-Barrera
authors.affiliation: Departamento de Morfología, Universidad del Valle, Cali, Colombia.
authors.forename: Julián
authors.initials: J
authors.lastname: Ramírez-Cheyne
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D058495:Sotos Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human
keywords: 5q35 deletion; Comparative genomic hybridisation; Deleción 5q35; Gen NSD1; Hibridación genómica comparativa; Mental retardation; NSD1 gene; Overgrowth syndrome; Retraso mental; Síndrome de sobrecrecimiento