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CNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease

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dc.contributor.authorPineda, Tatiana
dc.contributor.authorZarante, Ignacio
dc.contributor.authorParedes Brijaldo, Angela Camila
dc.contributor.authorRozo, Juan Pablo
dc.contributor.authorReyes, Martha C.
dc.contributor.authorMoreno Niño, Olga María
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humanaspa
dc.contributor.javerianateacherZarante, Ignacio
dc.contributor.javerianateacherMoreno Niño, Olga María
dc.coverage.cityBogotá (Colombia)spa
dc.coverage.spatialColombiaspa
dc.coverage.temporal2012-2013
dc.date.accessioned2021-06-22T01:14:53Z
dc.date.available2021-06-22T01:14:53Z
dc.date.created2021-05-24
dc.description.abstractenglishBackground: Congenital heart disease (CHD) is the most common congenital malformation, it is frequently found as an isolated defect, and the etiology is not completely understood. Although most of the cases have multifactorial causes, they can also be secondary to chromosomal abnormalities, monogenic diseases, microduplications or microdeletions, among others. Copy number variations (CNVs) at 22q11.2 are associated with a variety of symptoms including CHD, thymic aplasia, and developmental and behavioral manifestations. We tested CNVs in the 22q11.2 chromosomal region by MLPA in a cohort of Colombian patients with isolated CHD to establish the frequency of these CNVs in the cohort. Methods: CNVs analysis of 22q11.2 by MLPA were performed in 32 patients with apparently isolate CHD during the neonatal period. Participants were enrolled from different hospitals in Bogotá, and they underwent a clinical assessment by a cardiologist and a clinical geneticist. Results: CNVs in the 22q11.2 chromosomal region were found in 7 patients (21.9%). The typical deletion was found in 6 patients (18.75%) and atypical 1.5 Mb duplication was found in 1 patient (3.1%). Conclusions: CNVs in 22q11.2 is a common finding in patients presenting with isolated congenital cardiac disease, therefore these patients should be tested early despite the absence of other clinical manifestations. MLPA is a very useful molecular method and provides an accurate diagnosis.spa
dc.description.comunidadInfantes con Cardiopatía congénita
dc.description.indexingRevista Internacional - Indexadaspa
dc.description.orcidhttps://orcid.org/0000-0003-0882-2917
dc.description.orcidhttps://orcid.org/0000-0002-0729-6866
dc.description.orcidhttps://orcid.org/0000-0001-5439-5560
dc.description.orcidhttps://orcid.org/0000-0002-0826-6191
dc.description.publindexA2
dc.description.quartilescopusQ2spa
dc.description.quartilewosQ3
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.identifierhttps://journals.sagepub.com/doi/full/10.1177/11795468211016870?rfr_dat=cr_pub++0pubmed&url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.orgspa
dc.identifier.doihttps://doi.org/10.1177/11795468211016870spa
dc.identifier.instnameinstname:Pontificia Universidad Javerianaspa
dc.identifier.issn1179-5468spa
dc.identifier.reponamereponame:Repositorio Institucional - Pontificia Universidad Javerianaspa
dc.identifier.repourlrepourl:https://repository.javeriana.edu.cospa
dc.identifier.urihttp://hdl.handle.net/10554/54187
dc.language.isoengspa
dc.relation.citationendpage6spa
dc.relation.citationstartpage1spa
dc.relation.citationvolume15spa
dc.relation.ispartofjournalClinical Medicine Insights: Cardiologyspa
dc.rights.coarhttp://purl.org/coar/access_right/c_abf2spa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.subject.keywordCongenital cardiopathyspa
dc.subject.keyword22q11.2 deletion syndromespa
dc.subject.keywordMultiplex ligation-dependent probe amplification (MLPA)spa
dc.subject.keywordCopy number variation (CNV)spa
dc.titleCNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac diseasespa
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1spa
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

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