Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

dc.creatorDelea, Marisol
dc.creatorEspeche, Lucía Daniela
dc.creatorBruque, Carlos David
dc.creatorBidondo, María Paz
dc.creatorMassara, Lucía S
dc.creatorOliveri, Jaen
dc.creatorBrun, Paloma
dc.creatorCosentino, Viviana R
dc.creatorMartinoli, Celeste
dc.creatorTolaba, Norma
dc.creatorPicon, Claudina
dc.creatorPonce Zaldua, María Eugenia
dc.creatorÁvila, Silvia
dc.creatorGutnisky, Viviana
dc.creatorPérez, Myriam
dc.creatorFurforo, Lilian
dc.creatorBuzzalino, Noemí Delia
dc.creatorLiascovich, Rosa
dc.creatorGroisman, Boris
dc.creatorRittler, Mónica
dc.creatorRozental, Sandra
dc.creatorBarbero, Pablo
dc.creatorDain, Liliana
dc.date2020-12-28T14:31:08Z
dc.date2020-12-28T14:31:08Z
dc.date2018-09-11
dc.date.accessioned2023-08-29T20:08:13Z
dc.date.available2023-08-29T20:08:13Z
dc.identifier2073-4425
dc.identifierhttp://sgc.anlis.gob.ar/handle/123456789/2000
dc.identifier10.3390/genes9090454
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8520057
dc.descriptionFil: Delea, Marisol. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Espeche, Lucía D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Bruque, Carlos D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Bidondo, María Paz. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Massara, Lucía S. Hospital El Cruce Dr. Néstor Kirchner; Argentina.
dc.descriptionFil: Oliveri, Jaen. Hospital El Cruce Dr. Néstor Kirchner; Argentina.
dc.descriptionFil: Brun, Paloma. Hospital El Cruce Dr. Néstor Kirchner; Argentina.
dc.descriptionFil: Cosentino, Viviana R. Hospital Gandulfo. Departamento de Neonatología; Argentina.
dc.descriptionFil: Martinoli, Celeste. Hospital Sor María Ludovica. Servicio de Genética; Argentina.
dc.descriptionFil: Tolaba, Norma. Hospital Dr. Arturo Oñativia; Argentina.
dc.descriptionFil: Picon, Claudina. Hospital Pediátrico Dr. Avelino Castelán; Argentina.
dc.descriptionFil: Ponce Zaldua, María Eugenia. Hospital Provincial Neuquén Dr. Eduardo Castro Rendón. Servicio de Genética; Argentina.
dc.descriptionFil: Ávila, Silvia. Hospital Provincial Neuquén Dr. Eduardo Castro Rendón. Servicio de Genética; Argentina.
dc.descriptionFil: Gutnisky, Viviana. Laboratorio Central de Redes y Programas de Corrientes; Argentina.
dc.descriptionFil: Pérez, Myriam. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Furforo, Lilian. Hospital Materno Infantil Dr. Ramón Sardá; Argentina.
dc.descriptionFil: Buzzalino, Noemí D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Liascovich, Rosa. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Groisman, Boris. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Rittler, Mónica. Hospital Materno Infantil Dr. Ramón Sardá; Argentina.
dc.descriptionFil: Rozental, Sandra. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Barbero, Pablo. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Dain, Liliana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionCongenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its frequency is estimated in 1/1000 live births, accounting for approximately 10⁻30% of all CHD cases. Chromosomal abnormalities and copy number variants (CNVs) contribute to the disease risk in patients with syndromic and/or non-syndromic forms. Although largely studied in several populations, their frequencies are barely reported for Latin American countries. The aim of this study was to analyze chromosomal abnormalities, 22q11 deletions, and other genomic imbalances in a group of Argentinean patients with CCHD of unknown etiology. A cohort of 219 patients with isolated CCHD or associated with other major anomalies were referred from different provinces of Argentina. Cytogenetic studies, Multiplex-Ligation-Probe-Amplification (MLPA) and fluorescent in situ hybridization (FISH) analysis were performed. No cytogenetic abnormalities were found. 22q11 deletion was found in 23.5% of the patients from our cohort, 66% only had CHD with no other major anomalies. None of the patients with transposition of the great vessels (TGV) carried the 22q11 deletion. Other 4 clinically relevant CNVs were also observed: a distal low copy repeat (LCR)D-E 22q11 duplication, and 17p13.3, 4q35 and TBX1 deletions. In summary, 25.8% of CCHD patients presented imbalances associated with the disease.
dc.formatpdf
dc.languageen
dc.publisherMDPI
dc.relation#PLACEHOLDER_PARENT_METADATA_VALUE#
dc.relationdatasets
dc.relationGenes
dc.rightsopen
dc.sourceGenes 2018; 9(9):454
dc.subjectCardiopatías Congénitas
dc.subjectArterias
dc.subjectArgentina
dc.titleGenetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
dc.typeArtículo


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