ArticleMolecular syndromology2017
Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.
Article in Molecular syndromology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 37 citations in OpenAlex.
- Genetic Analysis Strategy for Diagnosing Congenital Heart Disease.Molecular syndromology · 2026Article
- Congenital heart disease presentations in the 15q11.2 microdeletion syndrome.Frontiers in genetics · 2025Review
- Looks Can Be Deceiving: Diagnostic Power of Exome Sequencing in Debunking 15q11.2 Copy Number Variations.Genes · 2024Article
- Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.Journal of pediatric genetics · 2024Article
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- Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.European journal of human genetics : EJHG · 2023Article
- Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis.Journal of pediatric genetics · 2023Review
- Copy number variant analysis for syndromic congenital heart disease in the Chinese population.Human genomics · 2022Article
- SLC2A3 variants in familial and sporadic congenital heart diseases in a Chinese Yunnan population.Journal of clinical laboratory analysis · 2022Article
- MLPA analysis of 32 foetuses with a congenital heart defect and 1 foetus with renal defects - pilot study. The significant frequency rate of presented pathological CNV.Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia · 2022Article
- Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.European journal of pediatrics · 2021Article
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- Integrated Gene Expression Profiling Analysis Reveals Potential Molecular Mechanisms and Candidate Biomarkers for Early Risk Stratification and Prediction of STEMI and Post-STEMI Heart Failure Patients.Frontiers in cardiovascular medicine · 2021Article
- The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review.Journal of pediatric genetics · 2020Review
- A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.Scientific reports · 2018Article
- Beyond Gene Panels: Whole Exome Sequencing for Diagnosis of Congenital Heart Disease.Circulation. Genomic and precision medicine · 2018Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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 (
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