Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography

@article{Bellucco2010Investigating2D,
  title={Investigating 22q11.2 Deletion and Other Chromosomal Aberrations in Fetuses With Heart Defects Detected by Prenatal Echocardiography},
  author={Fernanda T S Bellucco and Sintia I. Belangero and Leila Montenegro Silveira Farah and Maria Virg{\'i}nia Lima Machado and Adriano Pastor Cruz and L{\'i}lian Maria Lopes and Marco Antonio Borges Lopes and Marcelo Zugaib and Mirlene Cec{\'i}lia Soares Pinho Cernach and Maria Isabel Melaragno},
  journal={Pediatric Cardiology},
  year={2010},
  volume={31},
  pages={1146-1150}
}
Congenital heart disease (CHD) is the most common birth defect and the leading cause of mortality in the first year of life. In fetuses with a heart defect, chromosomal abnormalities are very frequent. Besides aneuploidy, 22q11.2 deletion is one of the most recognizable chromosomal abnormalities causing CHD. The frequency of this abnormality varies in nonselected populations. This study aimed to investigate the incidence of the 22q11.2 deletion and other chromosomal alterations in a Brazilian… CONTINUE READING

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