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• W2890774203 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." @default.
• W2890774203 created "2018-09-27" @default.
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• W2890774203 date "2018-09-11" @default.
• W2890774203 modified "2023-10-17" @default.
• W2890774203 title "Genetic Imbalances in Argentinean Patients with Congenital Conotruncal Heart Defects" @default.
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• W2890774203 cites W1482498530 @default.
• W2890774203 cites W1501608538 @default.
• W2890774203 cites W1506409704 @default.
• W2890774203 cites W1510490321 @default.
• W2890774203 cites W1539911956 @default.
• W2890774203 cites W1545639585 @default.
• W2890774203 cites W1729285623 @default.
• W2890774203 cites W1870923374 @default.
• W2890774203 cites W1965573357 @default.
• W2890774203 cites W1967990660 @default.
• W2890774203 cites W1985995758 @default.
• W2890774203 cites W1989238629 @default.
• W2890774203 cites W2000548479 @default.
• W2890774203 cites W2011039698 @default.
• W2890774203 cites W2012517517 @default.
• W2890774203 cites W2017736681 @default.
• W2890774203 cites W2020117837 @default.
• W2890774203 cites W2025207473 @default.
• W2890774203 cites W2026245310 @default.
• W2890774203 cites W2028174558 @default.
• W2890774203 cites W2033871452 @default.
• W2890774203 cites W2037965652 @default.
• W2890774203 cites W2040341487 @default.
• W2890774203 cites W2043289035 @default.
• W2890774203 cites W2047455586 @default.
• W2890774203 cites W2049797125 @default.
• W2890774203 cites W2053869099 @default.
• W2890774203 cites W2054455273 @default.
• W2890774203 cites W2056452206 @default.
• W2890774203 cites W2057922096 @default.
• W2890774203 cites W2066918107 @default.
• W2890774203 cites W2071116898 @default.
• W2890774203 cites W2071591806 @default.
• W2890774203 cites W2076035729 @default.
• W2890774203 cites W2077686291 @default.
• W2890774203 cites W2081927267 @default.
• W2890774203 cites W2086342925 @default.
• W2890774203 cites W2089098515 @default.
• W2890774203 cites W2098280227 @default.
• W2890774203 cites W2102156096 @default.
• W2890774203 cites W2123152110 @default.
• W2890774203 cites W2124773366 @default.
• W2890774203 cites W2125028428 @default.
• W2890774203 cites W2125253114 @default.
• W2890774203 cites W2130639247 @default.
• W2890774203 cites W2136535421 @default.
• W2890774203 cites W2137763836 @default.
• W2890774203 cites W2140279570 @default.
• W2890774203 cites W2143481531 @default.
• W2890774203 cites W2212158921 @default.
• W2890774203 cites W2230656280 @default.
• W2890774203 cites W2238514531 @default.
• W2890774203 cites W2253685848 @default.
• W2890774203 cites W2342885203 @default.
• W2890774203 cites W236116992 @default.
• W2890774203 cites W2422478883 @default.
• W2890774203 cites W247100659 @default.
• W2890774203 cites W2500269539 @default.
• W2890774203 cites W2554923406 @default.
• W2890774203 cites W2588378154 @default.
• W2890774203 cites W2601321729 @default.
• W2890774203 cites W2763010484 @default.
• W2890774203 cites W2766796182 @default.
• W2890774203 cites W43806604 @default.
• W2890774203 cites W44429629 @default.
• W2890774203 doi "https://doi.org/10.3390/genes9090454" @default.
• W2890774203 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6162499" @default.
• W2890774203 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30208644" @default.
• W2890774203 hasPublicationYear "2018" @default.

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