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Monteiro RAC, de Freitas ML, Vianna GS, et al. Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test. Mol Syndromol. 2017;8(5):227-235doi: 10.1159/000477226.
Monteiro, R. A. C., de Freitas, M. L., Vianna, G. S., de Oliveira, V. T., Pietra, R. X., Ferreira, L. C. A., Rocha, P. P. O., da S Gonçalves, M., da C César, G., de S Lima, J., Medeiros, P. F. V., Mazzeu, J. F., & Jehee, F. S. (2017). Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test. Molecular syndromology, 8(5), 227-235. https://doi.org/10.1159/000477226
Monteiro, Rejane A C, et al. "Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test." Molecular syndromology vol. 8,5 (2017): 227-235. doi: https://doi.org/10.1159/000477226
Monteiro RAC, de Freitas ML, Vianna GS, de Oliveira VT, Pietra RX, Ferreira LCA, Rocha PPO, da S Gonçalves M, da C César G, de S Lima J, Medeiros PFV, Mazzeu JF, Jehee FS. Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test. Mol Syndromol. 2017 Aug;8(5):227-235. doi: 10.1159/000477226. Epub 2017 Jun 14. PMID: 28878606; PMCID: PMC5582521.
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Mol Syndromol. 2017 Aug;8(5):227-235. doi: 10.1159/000477226. Epub 2017 Jun 14.

Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.

Molecular syndromology

Rejane A C Monteiro, Mariana L de Freitas, Gabrielle S Vianna, Valdirene T de Oliveira, Rafaella X Pietra, Luana C A Ferreira, Patrícia P O Rocha, Michele da S Gonçalves, Giovana da C César, Joziele de S Lima, Paula F V Medeiros, Juliana F Mazzeu, Fernanda S Jehee

Affiliations

  1. Human Genetics Laboratory, Institute of Education and Research of Santa Casa de Belo Horizonte, Belo Horizonte, Brazil.
  2. Department of Research and Development (R & D) of the Hermes Pardini Institute, Vespasiano, Brazil.
  3. Pediatric ICU, Hospital Santa Casa de Misericórdia of Belo Horizonte, Belo Horizonte, Brazil.
  4. Children's Hospital João Paulo II, Belo Horizonte, Brazil.
  5. Federal University of Campina Grande, Campina Grande, Brazil.
  6. Federal University of Brasília, Brasília, Brazil.

PMID: 28878606 PMCID: PMC5582521 DOI: 10.1159/000477226

Abstract

Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it is characterized as a syndromic heart disease (syndromic CHD) and corresponds to 25% of all liveborn infants with a heart defect. The etiology in about 65% of the cases still remains unknown, and in about 35% of the patients, it is associated with genetic factors. In the present study, MLPA and SNP-array techniques were used to investigate a group of 47 patients with syndromic CHD. In total, 16 defects (34%) were identified, of which 12 (25.5%) were classified as pathogenic or probably pathogenic. The most frequent abnormalities were 22q11.2 deletion (22q11.2 deletion syndrome) and 7q11.23 deletion (Williams-Beuren syndrome). We also show that rarer malformations may be associated with syndromic CHD, such as 14q32.33 deletion as well as 17q25.3, 15q11.2 (BP1-BP2), 22q13.31, and 12p13.31 (

Keywords: Copy number variation; Heart disease; MLPA; SLC2A3; SNP array

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