Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

Autores
Delea, Marisol; Espeche, Lucía Daniela; Bruque, Carlos David; Bidondo, María Paz; Massara, Lucía S; Oliveri, Jaen; Brun, Paloma; Cosentino, Viviana R; Martinoli, Celeste; Tolaba, Norma; Picon, Claudina; Ponce Zaldua, María Eugenia; Ávila, Silvia; Gutnisky, Viviana; Pérez, Myriam; Furforo, Lilian; Buzzalino, Noemí Delia; Liascovich, Rosa; Groisman, Boris; Rittler, Mónica; Rozental, Sandra; Barbero, Pablo; Dain, Liliana
Año de publicación
2018
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Fil: Delea, Marisol. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Espeche, Lucía D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Bruque, Carlos D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Bidondo, María Paz. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Massara, Lucía S. Hospital El Cruce Dr. Néstor Kirchner; Argentina.
Fil: Oliveri, Jaen. Hospital El Cruce Dr. Néstor Kirchner; Argentina.
Fil: Brun, Paloma. Hospital El Cruce Dr. Néstor Kirchner; Argentina.
Fil: Cosentino, Viviana R. Hospital Gandulfo. Departamento de Neonatología; Argentina.
Fil: Martinoli, Celeste. Hospital Sor María Ludovica. Servicio de Genética; Argentina.
Fil: Tolaba, Norma. Hospital Dr. Arturo Oñativia; Argentina.
Fil: Picon, Claudina. Hospital Pediátrico Dr. Avelino Castelán; Argentina.
Fil: Ponce Zaldua, María Eugenia. Hospital Provincial Neuquén Dr. Eduardo Castro Rendón. Servicio de Genética; Argentina.
Fil: Ávila, Silvia. Hospital Provincial Neuquén Dr. Eduardo Castro Rendón. Servicio de Genética; Argentina.
Fil: Gutnisky, Viviana. Laboratorio Central de Redes y Programas de Corrientes; Argentina.
Fil: Pérez, Myriam. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Furforo, Lilian. Hospital Materno Infantil Dr. Ramón Sardá; Argentina.
Fil: Buzzalino, Noemí D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Liascovich, Rosa. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Groisman, Boris. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Rittler, Mónica. Hospital Materno Infantil Dr. Ramón Sardá; Argentina.
Fil: Rozental, Sandra. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Barbero, Pablo. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Dain, Liliana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Congenital 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.
Fuente
Genes 2018; 9(9):454
Materia
Cardiopatías Congénitas
Arterias
Argentina
Nivel de accesibilidad
acceso abierto
Condiciones de uso
Repositorio
Sistema de Gestión del Conocimiento ANLIS MALBRÁN
Institución
Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
OAI Identificador
oai:sgc.anlis.gob.ar:Publications/123456789/2000
Acceder
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oai_identifier_str oai:sgc.anlis.gob.ar:Publications/123456789/2000
network_acronym_str SGCANLIS
repository_id_str a
network_name_str Sistema de Gestión del Conocimiento ANLIS MALBRÁN
spelling Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart DefectsDelea, MarisolEspeche, Lucía DanielaBruque, Carlos DavidBidondo, María PazMassara, Lucía SOliveri, JaenBrun, PalomaCosentino, Viviana RMartinoli, CelesteTolaba, NormaPicon, ClaudinaPonce Zaldua, María EugeniaÁvila, SilviaGutnisky, VivianaPérez, MyriamFurforo, LilianBuzzalino, Noemí DeliaLiascovich, RosaGroisman, BorisRittler, MónicaRozental, SandraBarbero, PabloDain, LilianaCardiopatías CongénitasArteriasArgentinaFil: Delea, Marisol. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Espeche, Lucía D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Bruque, Carlos D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Bidondo, María Paz. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Massara, Lucía S. Hospital El Cruce Dr. Néstor Kirchner; Argentina.Fil: Oliveri, Jaen. Hospital El Cruce Dr. Néstor Kirchner; Argentina.Fil: Brun, Paloma. Hospital El Cruce Dr. Néstor Kirchner; Argentina.Fil: Cosentino, Viviana R. Hospital Gandulfo. Departamento de Neonatología; Argentina.Fil: Martinoli, Celeste. Hospital Sor María Ludovica. Servicio de Genética; Argentina.Fil: Tolaba, Norma. Hospital Dr. Arturo Oñativia; Argentina.Fil: Picon, Claudina. Hospital Pediátrico Dr. Avelino Castelán; Argentina.Fil: Ponce Zaldua, María Eugenia. Hospital Provincial Neuquén Dr. Eduardo Castro Rendón. Servicio de Genética; Argentina.Fil: Ávila, Silvia. Hospital Provincial Neuquén Dr. Eduardo Castro Rendón. Servicio de Genética; Argentina.Fil: Gutnisky, Viviana. Laboratorio Central de Redes y Programas de Corrientes; Argentina.Fil: Pérez, Myriam. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Furforo, Lilian. Hospital Materno Infantil Dr. Ramón Sardá; Argentina.Fil: Buzzalino, Noemí D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Liascovich, Rosa. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Groisman, Boris. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Rittler, Mónica. Hospital Materno Infantil Dr. Ramón Sardá; Argentina.Fil: Rozental, Sandra. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Barbero, Pablo. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Dain, Liliana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Congenital 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.MDPI2018-09-11info:ar-repo/semantics/articuloinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdf2073-4425http://sgc.anlis.gob.ar/handle/123456789/200010.3390/genes9090454Genes 2018; 9(9):454reponame:Sistema de Gestión del Conocimiento ANLIS MALBRÁNinstname:Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"instacron:ANLIS#PLACEHOLDER_PARENT_METADATA_VALUE#datasetsGenesenginfo:eu-repo/semantics/openAccess2025-09-04T11:18:07Zoai:sgc.anlis.gob.ar:Publications/123456789/2000Institucionalhttp://sgc.anlis.gob.ar/Organismo científico-tecnológicoNo correspondehttp://sgc.anlis.gob.ar/oai/biblioteca@anlis.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:a2025-09-04 11:18:08.076Sistema de Gestión del Conocimiento ANLIS MALBRÁN - Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"false
dc.title.none.fl_str_mv Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
title Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
spellingShingle Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
Delea, Marisol
Cardiopatías Congénitas
Arterias
Argentina
title_short Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
title_full Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
title_fullStr Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
title_full_unstemmed Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
title_sort Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects
dc.creator.none.fl_str_mv Delea, Marisol
Espeche, Lucía Daniela
Bruque, Carlos David
Bidondo, María Paz
Massara, Lucía S
Oliveri, Jaen
Brun, Paloma
Cosentino, Viviana R
Martinoli, Celeste
Tolaba, Norma
Picon, Claudina
Ponce Zaldua, María Eugenia
Ávila, Silvia
Gutnisky, Viviana
Pérez, Myriam
Furforo, Lilian
Buzzalino, Noemí Delia
Liascovich, Rosa
Groisman, Boris
Rittler, Mónica
Rozental, Sandra
Barbero, Pablo
Dain, Liliana
author Delea, Marisol
author_facet Delea, Marisol
Espeche, Lucía Daniela
Bruque, Carlos David
Bidondo, María Paz
Massara, Lucía S
Oliveri, Jaen
Brun, Paloma
Cosentino, Viviana R
Martinoli, Celeste
Tolaba, Norma
Picon, Claudina
Ponce Zaldua, María Eugenia
Ávila, Silvia
Gutnisky, Viviana
Pérez, Myriam
Furforo, Lilian
Buzzalino, Noemí Delia
Liascovich, Rosa
Groisman, Boris
Rittler, Mónica
Rozental, Sandra
Barbero, Pablo
Dain, Liliana
author_role author
author2 Espeche, Lucía Daniela
Bruque, Carlos David
Bidondo, María Paz
Massara, Lucía S
Oliveri, Jaen
Brun, Paloma
Cosentino, Viviana R
Martinoli, Celeste
Tolaba, Norma
Picon, Claudina
Ponce Zaldua, María Eugenia
Ávila, Silvia
Gutnisky, Viviana
Pérez, Myriam
Furforo, Lilian
Buzzalino, Noemí Delia
Liascovich, Rosa
Groisman, Boris
Rittler, Mónica
Rozental, Sandra
Barbero, Pablo
Dain, Liliana
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Cardiopatías Congénitas
Arterias
Argentina
topic Cardiopatías Congénitas
Arterias
Argentina
dc.description.none.fl_txt_mv Fil: Delea, Marisol. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Espeche, Lucía D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Bruque, Carlos D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Bidondo, María Paz. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Massara, Lucía S. Hospital El Cruce Dr. Néstor Kirchner; Argentina.
Fil: Oliveri, Jaen. Hospital El Cruce Dr. Néstor Kirchner; Argentina.
Fil: Brun, Paloma. Hospital El Cruce Dr. Néstor Kirchner; Argentina.
Fil: Cosentino, Viviana R. Hospital Gandulfo. Departamento de Neonatología; Argentina.
Fil: Martinoli, Celeste. Hospital Sor María Ludovica. Servicio de Genética; Argentina.
Fil: Tolaba, Norma. Hospital Dr. Arturo Oñativia; Argentina.
Fil: Picon, Claudina. Hospital Pediátrico Dr. Avelino Castelán; Argentina.
Fil: Ponce Zaldua, María Eugenia. Hospital Provincial Neuquén Dr. Eduardo Castro Rendón. Servicio de Genética; Argentina.
Fil: Ávila, Silvia. Hospital Provincial Neuquén Dr. Eduardo Castro Rendón. Servicio de Genética; Argentina.
Fil: Gutnisky, Viviana. Laboratorio Central de Redes y Programas de Corrientes; Argentina.
Fil: Pérez, Myriam. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Furforo, Lilian. Hospital Materno Infantil Dr. Ramón Sardá; Argentina.
Fil: Buzzalino, Noemí D. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Liascovich, Rosa. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Groisman, Boris. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Rittler, Mónica. Hospital Materno Infantil Dr. Ramón Sardá; Argentina.
Fil: Rozental, Sandra. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Barbero, Pablo. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Dain, Liliana. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Congenital 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.
description Fil: Delea, Marisol. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
publishDate 2018
dc.date.none.fl_str_mv 2018-09-11
dc.type.none.fl_str_mv info:ar-repo/semantics/articulo
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv 2073-4425
http://sgc.anlis.gob.ar/handle/123456789/2000
10.3390/genes9090454
identifier_str_mv 2073-4425
10.3390/genes9090454
url http://sgc.anlis.gob.ar/handle/123456789/2000
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv #PLACEHOLDER_PARENT_METADATA_VALUE#
datasets
Genes
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Genes 2018; 9(9):454
reponame:Sistema de Gestión del Conocimiento ANLIS MALBRÁN
instname:Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron:ANLIS
reponame_str Sistema de Gestión del Conocimiento ANLIS MALBRÁN
collection Sistema de Gestión del Conocimiento ANLIS MALBRÁN
instname_str Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron_str ANLIS
institution ANLIS
repository.name.fl_str_mv Sistema de Gestión del Conocimiento ANLIS MALBRÁN - Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
repository.mail.fl_str_mv biblioteca@anlis.gov.ar
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score 12.623145

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