title: [22q11.2DS Syndrome as a Genetic Subtype of Schizophrenia].
abstract: BACKGROUND
  The 22q11.2 deletion syndrome (22q11.2DS) is associated with the microdeletion of this chromosomal region, and represents the second most common genetic syndrome after Down's syndrome. In patients with schizophrenia, 22q11.2DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%.
  
  
  OBJECTIVE
  To describe the generalities of 22q11.2DS syndrome as a genetic subtype of schizophrenia, its clinical characteristics, molecular genetic aspects, and frequency in different populations.
  
  
  METHODS
  A review was performed from 1967 to 2013 in scientific databases, compiling articles about 22q11.2DS syndrome and its association with schizophrenia.
  
  
  RESULTS
  The 22q11.2 DS syndrome has a variable phenotype associated with other genetic syndromes, birth defects in many tissues and organs, and a high rate of psychiatric disorders, particularly schizophrenia. Likewise, it has been identified in clinical populations with schizophrenia selected by the presence of common syndromic characteristics. FISH, qPCR and MLPA techniques, and recently, aCGH and NGS technologies, are being used to diagnose this microdeletion.
  
  
  CONCLUSIONS
  It is important in clinical practice to remember that people suffering the 22q11.2DS have a high genetic risk for developing schizophrenia, and it is considered that the simultaneous presence of this disease and 22q11.2DS represents a genetic subtype of schizophrenia. There are clear phenotypic criteria, molecular and cytogenetic methods to diagnose this group of patients, and to optimize a multidisciplinary approach in their monitoring.
authors.affiliation: Bióloga, Grupo de Estudios en Genética y Biología Molecular (GEBIMOL), Facultad de Ciencias, Escuela de Ciencias Biológicas, Universidad Pedagógica y Tecnológica de Colombia (UPTC), Tunja, Colombia. Electronic address: cindy.huertas@uptc.edu.co.
authors.forename: Cindy Katherin
authors.initials: CK
authors.lastname: Huertas-Rodríguez
authors.affiliation: Médico Magíster en Genética Humana, Unidad de Biología, Facultad de Ciencias Naturales y Matemáticas, Universidad del Rosario, Bogotá, Colombia.
authors.forename: César
authors.initials: C
authors.lastname: Payán-Gómez
authors.affiliation: Licenciada en Biología, Magíster en Ciencias Biológicas con énfasis en Genética Humana, Máster en Biología y Clínica del Cáncer, Profesora Asistente de la Facultad de Ciencias, Escuela de Ciencias Biológicas, Grupo de Estudios en Genética y Biología Molecular (GEBIMOL), Universidad Pedagógica y Tecnológica de Colombia, Tunja, Colombia.
authors.forename: Ruth Maribel
authors.initials: RM
authors.lastname: Forero-Castro
mesh_terms: D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D006801:Humans; D010641:Phenotype; D012559:Schizophrenia / Q000235:genetics*
keywords: 22q11.2 deletion syndrome; 22q11.2 microdeletion; 22q11.2DS; Esquizofrenia; Microdeleción 22q11.2; Schizophrenia; Síndrome de deleción 22q11.2