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

dc.contributorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
dc.contributorZarante, Ignacio
dc.contributorMoreno Niño, Olga María
dc.creatorPineda, Tatiana
dc.creatorZarante, Ignacio
dc.creatorParedes Brijaldo, Angela Camila
dc.creatorRozo, Juan Pablo
dc.creatorReyes, Martha C.
dc.creatorMoreno Niño, Olga María
dc.date2021-06-22T01:14:53Z
dc.date2021-06-22T01:14:53Z
dc.date2021-05-24
dc.date.accessioned2025-10-30T14:04:59Z
dc.date.available2025-10-30T14:04:59Z
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.org
dc.identifier1179-5468
dc.identifierhttp://hdl.handle.net/10554/54187
dc.identifierhttps://doi.org/10.1177/11795468211016870
dc.identifierinstname:Pontificia Universidad Javeriana
dc.identifierreponame:Repositorio Institucional - Pontificia Universidad Javeriana
dc.identifierrepourl:https://repository.javeriana.edu.co
dc.identifier.urihttp://test.repositoriodigital.com:8080/handle/123456789/193636
dc.descriptionQ3
dc.descriptionQ2
dc.descriptionInfantes con Cardiopatía congénita
dc.descriptionBackground: 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.
dc.descriptionhttps://orcid.org/0000-0003-0882-2917
dc.descriptionhttps://orcid.org/0000-0002-0729-6866
dc.descriptionhttps://orcid.org/0000-0001-5439-5560
dc.descriptionhttps://orcid.org/0000-0002-0826-6191
dc.descriptionRevista Internacional - Indexada
dc.descriptionA2
dc.formatPDF
dc.formatapplication/pdf
dc.formatapplication/pdf
dc.languageeng
dc.relation1
dc.relation6
dc.relationClinical Medicine Insights: Cardiology
dc.relation15
dc.rightsAtribución-NoComercial 4.0 Internacional
dc.rightshttp://creativecommons.org/licenses/by-nc/4.0/
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.subjectCongenital cardiopathy
dc.subject22q11.2 deletion syndrome
dc.subjectMultiplex ligation-dependent probe amplification (MLPA)
dc.subjectCopy number variation (CNV)
dc.titleCNVs in the 22q11.2 chromosomal region should be an early suspect in infants with congenital cardiac disease
dc.typehttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.typeArtículo de revista
dc.typehttp://purl.org/coar/resource_type/c_2df8fbb1
dc.coverageColombia
dc.coverage2012-2013
dc.coverageBogotá (Colombia)


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