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Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

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dc.contributor.author Delea, Marisol
dc.contributor.author Espeche, Lucia D
dc.contributor.author Bruque, Carlos D
dc.contributor.author Bidondo, Maria Paz
dc.contributor.author Massara, Lucia
dc.contributor.author Oliveri, Jaen
dc.contributor.author Brun, Paloma
dc.contributor.author Cosentino, Viviana R
dc.contributor.author Martinoli, Celeste
dc.contributor.author Tolaba, Norma
dc.contributor.author Picon, Claudina
dc.contributor.author Ponce Zaldua, Maria Eugenia
dc.contributor.author Avila, Silvia
dc.contributor.author Gutnisky, Viviana
dc.contributor.author Perez, Myriam
dc.contributor.author Furforo, Lilian
dc.contributor.author Buzzalino, Noemí D
dc.contributor.author Liascovich, Rosa
dc.contributor.author Groisman, Boris
dc.contributor.author Rittler, Mónica
dc.contributor.author Rozental, Sandra
dc.contributor.author Barbero, Pablo
dc.contributor.author Dain, Liliana
dc.date.accessioned 2019-02-28T17:42:55Z
dc.date.available 2019-02-28T17:42:55Z
dc.date.issued 2018-09-11
dc.identifier.citation Delea, M.; Espeche, L.D.; Bruque, C.D.; Bidondo, M.P.; Massara, L.S.; Oliveri, J.; Brun, P.; Cosentino, V.R.; Martinoli, C.; Tolaba, N.; Picon, C.; Ponce Zaldua, M.E.; Ávila, S.; Gutnisky, V.; Perez, M.; Furforo, L.; Buzzalino, N.D.; Liascovich, R.; Groisman, B.; Rittler, M.; Rozental, S.; Barbero, P.; Dain, L. Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects. Genes 2018, 9, 454. es_AR
dc.identifier.other 10.3390/genes9090454
dc.identifier.uri https://www.mdpi.com/2073-4425/9/9/454
dc.identifier.uri https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6162499/
dc.identifier.uri http://repositorio.hospitalelcruce.org/xmlui/handle/123456789/766
dc.description Fil: Massara, Lucia S. Hospital de Alta Complejidad en Red El Cruce Dr. Néstor C. Kirchner. Servicio de Laboratorio, Florencio Varela, Argentina. es_AR
dc.description.abstract 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. es_AR
dc.description.sponsorship PID0060/Agencia Nacional de Promocion Cientifica y Tecnologica; 2013/Carrillo Onativia Multicentric Fellowship; 2016/Fundacion Alberto J. Roemmers. es_AR
dc.language.iso es es_AR
dc.publisher MDPI es_AR
dc.relation.ispartofseries Genes (Basel);2018 Sep 11;9(9). pii: genes9090454. doi: 10.3390/genes9090454.
dc.rights Open access ES
dc.rights Creative Commons Attribution 4.0 International License EN
dc.rights http://creativecommons.org/licenses/by/4.0/ ES
dc.subject Síndrome de Deleción 22q11 es_AR
dc.subject 22q11 Deletion Syndrome es_AR
dc.subject Cardiopatías Congénitas es_AR
dc.subject Heart Defects, Congenital es_AR
dc.subject Argentina es_AR
dc.title Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects es_AR
dc.type Article es_AR


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