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22q11.2 DS syndrome as a genetic subtype of schizophrenia

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dc.creatorHuertas-Rodríguez, Cindy Katherinspa
dc.creatorPayan-Gomez, Cesar
dc.creatorForero-Castro, Ruth Maribelspa
dc.date.accessioned2020-05-25T23:59:28Z
dc.date.available2020-05-25T23:59:28Z
dc.date.created2015spa
dc.description.abstractIntroduction The 22q11.2 deletion syndrome (22q11.2 DS) 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, 22q11.2 DS has a prevalence of 2%, and in selected groups can be increased to between 32-53%. Objective To describe the generalities of 22q11.2 DS 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 22q11.2 DS 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 22q11.2 DS have a high genetic risk for developing schizophrenia, and it is considered that the simultaneous presence of this disease and 22q11.2 DS 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. © 2014 Asociación Colombiana de Psiquiatría.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.rcp.2014.09.002
dc.identifier.issn347450
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23050
dc.language.isoengspa
dc.publisherElsevier Doymaspa
dc.relation.citationEndPage60
dc.relation.citationIssueNo. 1
dc.relation.citationStartPage50
dc.relation.citationTitleRevista Colombiana de Psiquiatria
dc.relation.citationVolumeVol. 44
dc.relation.ispartofRevista Colombiana de Psiquiatria, ISSN:347450, Vol.44, No.1 (2015); pp. 50-60spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84937348502&doi=10.1016%2fj.rcp.2014.09.002&partnerID=40&md5=5c3c167b7ac457ff0e7f920d44587a23spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordArticlespa
dc.subject.keywordBirth defectspa
dc.subject.keywordChromosome deletion 22q11spa
dc.subject.keywordChromosome deletion 22q11.2spa
dc.subject.keywordClinical featurespa
dc.subject.keywordClinical practicespa
dc.subject.keywordDown syndromespa
dc.subject.keywordFluorescence in situ hybridizationspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordGenetic disorderspa
dc.subject.keywordGenetic riskspa
dc.subject.keywordHumanspa
dc.subject.keywordMedical record reviewspa
dc.subject.keywordMental diseasespa
dc.subject.keywordMolecular geneticsspa
dc.subject.keywordMorbidityspa
dc.subject.keywordMultiplex ligation dependent probe amplificationspa
dc.subject.keywordPhenotypespa
dc.subject.keywordPolymerase chain reactionspa
dc.subject.keywordSchizophreniaspa
dc.subject.keywordDigeorge syndromespa
dc.subject.keywordGenetic counselingspa
dc.subject.keywordGenetic predispositionspa
dc.subject.keywordGeneticsspa
dc.subject.keywordPsychologyspa
dc.subject.keywordSchizophreniaspa
dc.subject.keywordDigeorge Syndromespa
dc.subject.keywordGenetic Counselingspa
dc.subject.keywordGenetic Predisposition to Diseasespa
dc.subject.keywordHumansspa
dc.subject.keywordPhenotypespa
dc.subject.keywordSchizophreniaspa
dc.subject.keyword22q11.2 deletion syndromespa
dc.subject.keyword22q11.2 microdeletionspa
dc.subject.keyword22q11.2DSspa
dc.subject.keywordSchizophreniaspa
dc.title22q11.2 DS syndrome as a genetic subtype of schizophreniaspa
dc.title.TranslatedTitleEl síndrome 22q11.2D S como un subtipo genético de esquizofreniaspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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