ArticleBirth defects research. Part A, Clinical and molecular teratology2009
Chromosomal abnormalities among children born with conotruncal cardiac defects.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 65 citations in OpenAlex.
- Prenatal transposition of great arteries diagnosis and management: a Chinese single-center study.Frontiers in cardiovascular medicine · 2024Article
- Article
- NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.American journal of medical genetics. Part A · 2018Article
- Integrated rare variant-based risk gene prioritization in disease case-control sequencing studies.PLoS genetics · 2017Article
- Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.American journal of human genetics · 2015Article
- Effects of hypoxia and its relationship with apoptosis, stem cells, and angiogenesis on the thymus of children with congenital heart defects: a morphological and immunohistochemical study.International journal of clinical and experimental pathology · 2015Article
- Cytogenomic Evaluation of Subjects with Syndromic and Nonsyndromic Conotruncal Heart Defects.BioMed research international · 2015Article
- Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries.Molecular genetics & genomic medicine · 2014Article
- Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways.Birth defects research. Part A, Clinical and molecular teratology · 2014Article
- Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects.American journal of medical genetics. Part A · 2014Article
- Association of promoter methylation statuses of congenital heart defect candidate genes with Tetralogy of Fallot.Journal of translational medicine · 2014Article
- Pattern of congenital heart diseases in Rwandan children with genetic defects.The Pan African medical journal · 2014Article
- Computational fluid dynamics of developing avian outflow tract heart valves.Annals of biomedical engineering · 2012Article
- Thymidylate synthase polymorphisms and risk of conotruncal heart defects.American journal of medical genetics. Part A · 2012Article
- How insights from cardiovascular developmental biology have impacted the care of infants and children with congenital heart disease.Mechanisms of development · 2012Review
- Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.American journal of medical genetics. Part A · 2012Article
- The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.Pediatric cardiology · 2011Article
- 13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.International journal of cardiology · 2011Review
- The molecular genetics of congenital heart disease: a review of recent developments.Current opinion in cardiology · 2010Review
- Periconceptional nutrient intakes and risks of conotruncal heart defects.Birth defects research. Part A, Clinical and molecular teratology · 2010Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundConotruncal heart defects compose 25% to 30% of nonsyndromic congenital heart defects. This study describes the frequency of chromosome abnormalities and microdeletion of 22q11 associated among infants and fetuses delivered with conotruncal heart malformations.
methodsFrom a population base of 974,579 infants/fetuses delivered, 622 California infants/fetuses were ascertained with a defect of aortopulmonary septation. Infants whose primary cardiac defect was tetralogy of Fallot (n = 296) or d-transposition of the great arteries (n = 189) were screened for microdeletion of 22q11.
resultsOf the infants who had routine karyotypes, 5% had chromosomal abnormalities, including four with extra sex chromosomes. Thirty infants had chromosome 22q11 microdeletions, providing a cause for 10% of infants whose primary defect was tetralogy of Fallot. Right aortic arch, abnormal branching patterns of the major arteries arising from the thoracic aorta, and pulmonary artery abnormalities were observed more frequently among infants with tetralogy of Fallot caused by 22q11 microdeletion.
conclusionsWe found an unusual number of infants with an extra sex chromosome and a conotruncal defect. Infants with tetralogy of Fallot owing to 22q11 microdeletion showed more associated vascular anomalies than infants with tetralogy without a 22q11 microdeletion. Although these associated vascular anomalies provide clues as to which infants with tetralogy of Fallot are more likely to carry the microdeletion, the overall risk of 10% among infants with tetralogy of Fallot warrants chromosome analysis and fluorescent in situ hybridization (FISH) testing routinely, which may be supplanted by genome-wide copy number testing as it becomes more widely utilized.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.