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Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects

Mostrar el registro sencillo del ítem Delea, Marisol Espeche, Lucia D Bruque, Carlos D Bidondo, Maria Paz Massara, Lucia Oliveri, Jaen Brun, Paloma Cosentino, Viviana R Martinoli, Celeste Tolaba, Norma Picon, Claudina Ponce Zaldua, Maria Eugenia Avila, Silvia Gutnisky, Viviana Perez, Myriam Furforo, Lilian Buzzalino, Noemí D Liascovich, Rosa Groisman, Boris Rittler, Mónica Rozental, Sandra Barbero, Pablo Dain, Liliana 2019-02-28T17:42:55Z 2019-02-28T17:42:55Z 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.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 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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