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Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease

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dc.creatorSalazar M.spa
dc.creatorVillalba G.spa
dc.creatorMateus H.spa
dc.creatorVillegas Gálvez, Victoria Eugeniaspa
dc.creatorFonseca Mendoza, Dora Janethspa
dc.creatorNúñez F.spa
dc.creatorCaicedo V.spa
dc.creatorPachón S.spa
dc.creatorBernal J.E.spa
dc.date.accessioned2020-05-25T23:55:43Z
dc.date.available2020-05-25T23:55:43Z
dc.date.created2011spa
dc.description.abstractCardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and environmental factors. Since 1990 these types of pathologies have been associated with 22q11 microdeletion. In this study, the frequency of microdeletion 22q11 was determined in 61 patients with non-syndromic congenital heart disease. DNA was extracted from peripheral blood and TUPLE1 and STR D10S2198 genes were amplified by multiplex PCR and visualized in agarose gels. Gene content was quantified by densitometry. Three patients were found with microdeletion 22q11, representing a 4.9% frequency. This microdeletion was associated with two cases of Tetralogy of Fallot and a third case with atrial septal defect (ASD). In conclusion, the frequency for microdeletion 22q11 in the population analyzed was 4.9%. The cases that presented Teratology of Fallot had a frequency for this microdeletion of 7.4% and for ASD of 11.1%.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issn5355133
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22190
dc.language.isoengspa
dc.relation.citationEndPage343
dc.relation.citationIssueNo. 4
dc.relation.citationStartPage334
dc.relation.citationTitleInvestigacion Clinica
dc.relation.citationVolumeVol. 52
dc.relation.ispartofInvestigacion Clinica, ISSN:5355133, Vol.52, No.4 (2011); pp. 334-343spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84859042559&partnerID=40&md5=5626cd84766912b4707a36e6c2c57b09spa
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.keywordnewborneng
dc.subject.keywordcongenitaleng
dc.subject.keywordChromosome deletion 22q11spa
dc.subject.keywordatrialeng
dc.subject.keywordpreschooleng
dc.subject.keywordhumaneng
dc.subject.keywordpair 22eng
dc.subject.keywordCongenital heart diseasespa
dc.subject.keywordFallot tetralogyspa
dc.subject.keywordGenetic associationspa
dc.subject.keywordHeart atrium septum defectspa
dc.subject.keywordHumanspa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordAdolescentspa
dc.subject.keywordAdultspa
dc.subject.keywordChildspa
dc.subject.keywordChildeng
dc.subject.keywordChromosome deletionspa
dc.subject.keywordChromosomeseng
dc.subject.keywordColombiaspa
dc.subject.keywordDna mutational analysisspa
dc.subject.keywordFemalespa
dc.subject.keywordGene frequencyspa
dc.subject.keywordGenetic predisposition to diseasespa
dc.subject.keywordHeart defectseng
dc.subject.keywordHeart septal defectseng
dc.subject.keywordHumansspa
dc.subject.keywordInfantspa
dc.subject.keywordInfanteng
dc.subject.keywordMalespa
dc.subject.keywordTetralogy of fallotspa
dc.subject.keywordYoung adultspa
dc.subject.keywordAtrial septal defectsspa
dc.subject.keywordCongenital heart diseasesspa
dc.subject.keywordDensitometryspa
dc.subject.keywordMicrodeletion 22q11spa
dc.subject.keywordMultiplex pcrspa
dc.subject.keywordTetralogy of fallotspa
dc.subject.keywordTuple 1spa
dc.titleAnalysis of microdeletions in 22q11 in Colombian patients with congenital heart diseasespa
dc.title.TranslatedTitleAnálisis de microdeleciones en 22q11 en pacientes colombianos con cardiopatía congénita no sindrómicaspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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