{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T10:53:36Z","timestamp":1761562416850,"version":"build-2065373602"},"reference-count":68,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2018,9,11]],"date-time":"2018-09-11T00:00:00Z","timestamp":1536624000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003074","name":"Agencia Nacional de Promoci\u00f3n Cient\u00edfica y Tecnol\u00f3gica","doi-asserted-by":"publisher","award":["PID0060"],"award-info":[{"award-number":["PID0060"]}],"id":[{"id":"10.13039\/501100003074","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Carrillo O\u00f1ativia Multicentric Fellowship","award":["2013"],"award-info":[{"award-number":["2013"]}]},{"DOI":"10.13039\/501100006449","name":"Fundaci\u00f3n Alberto J. Roemmers","doi-asserted-by":"publisher","award":["2016"],"award-info":[{"award-number":["2016"]}],"id":[{"id":"10.13039\/501100006449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u201330% 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.<\/jats:p>","DOI":"10.3390\/genes9090454","type":"journal-article","created":{"date-parts":[[2018,9,11]],"date-time":"2018-09-11T11:40:02Z","timestamp":1536666002000},"page":"454","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7380-9968","authenticated-orcid":false,"given":"Marisol","family":"Delea","sequence":"first","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luc\u00eda D.","family":"Espeche","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0726-5418","authenticated-orcid":false,"given":"Carlos D.","family":"Bruque","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"},{"name":"Instituto de Biolog\u00eda y Medicina Experimental, CONICET, Ciudad Aut\u00f3noma de Buenos Aires 1428, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Paz","family":"Bidondo","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luc\u00eda S.","family":"Massara","sequence":"additional","affiliation":[{"name":"Hospital El Cruce, Dr. N\u00e9stor Kirchner, Florencio Varela 1888, Provincia de Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaen","family":"Oliveri","sequence":"additional","affiliation":[{"name":"Hospital El Cruce, Dr. N\u00e9stor Kirchner, Florencio Varela 1888, Provincia de Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paloma","family":"Brun","sequence":"additional","affiliation":[{"name":"Hospital El Cruce, Dr. N\u00e9stor Kirchner, Florencio Varela 1888, Provincia de Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviana R.","family":"Cosentino","sequence":"additional","affiliation":[{"name":"Departamento de Neonatolog\u00eda, Hospital Gandulfo, Lomas de Zamora 1832, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celeste","family":"Martinoli","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital Sor Mar\u00eda Ludovica, La Plata 1904, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norma","family":"Tolaba","sequence":"additional","affiliation":[{"name":"Hospital Dr. Arturo O\u00f1ativia, Salta 4400, Salta, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudina","family":"Picon","sequence":"additional","affiliation":[{"name":"Hospital Pedi\u00e1trico Dr. Avelino Castel\u00e1n, Resistencia 3500, Chaco, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Eugenia","family":"Ponce Zaldua","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital Provincial Neuqu\u00e9n \u201cDr. Eduardo Castro Rend\u00f3n\u201d, Neuqu\u00e9n 8300, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"\u00c1vila","sequence":"additional","affiliation":[{"name":"Servicio de Gen\u00e9tica, Hospital Provincial Neuqu\u00e9n \u201cDr. Eduardo Castro Rend\u00f3n\u201d, Neuqu\u00e9n 8300, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviana","family":"Gutnisky","sequence":"additional","affiliation":[{"name":"Laboratorio Central de Redes y Programas -MSP, Corrientes 3400, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myriam","family":"Perez","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilian","family":"Furforo","sequence":"additional","affiliation":[{"name":"Hospital Materno Infantil Dr. Ram\u00f3n Sard\u00e1, Ciudad Aut\u00f3noma de Buenos Aires 1246, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noem\u00ed D.","family":"Buzzalino","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Liascovich","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris","family":"Groisman","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Rittler","sequence":"additional","affiliation":[{"name":"Hospital Materno Infantil Dr. Ram\u00f3n Sard\u00e1, Ciudad Aut\u00f3noma de Buenos Aires 1246, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Rozental","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6026-744X","authenticated-orcid":false,"given":"Pablo","family":"Barbero","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liliana","family":"Dain","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica, ANLIS, Ciudad Aut\u00f3noma de Buenos Aires 1425, Argentina"},{"name":"Departamento de Fisiolog\u00eda, Biolog\u00eda Molecular y Celular, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Aut\u00f3noma de Buenos Aires 1428, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2018,9,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3015","DOI":"10.1161\/CIRCULATIONAHA.106.183056","article-title":"Genetic basis for congenital heart defects: current knowledge: a scientific statement from the american heart association congenital cardiac defects committee, council on cardiovascular disease in the young: endorsed by the american academy of pediatrics","volume":"115","author":"Pierpont","year":"2007","journal-title":"Circulation"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1038\/nature06801","article-title":"The developmental genetics of congenital heart disease","volume":"451","author":"Bruneau","year":"2008","journal-title":"Nature"},{"key":"ref_3","unstructured":"Groisman, B., Bidondo, M.P., Duarte, S., Piola, A., Tardivo, A., Liascovich, R., and Barbero, P. 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