ArticleJournal of pediatric genetics2020
Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil.
Article in Journal of pediatric genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- Genetic Analysis Strategy for Diagnosing Congenital Heart Disease.Molecular syndromology · 2026Article
- Article
- Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification.Molecular genetics & genomic medicine · 2025Article
- Cardiovascular Diseases in Public Health: Chromosomal Abnormalities in Congenital Heart Disease Causing Sudden Cardiac Death in Children.Medicina (Kaunas, Lithuania) · 2024Review
- Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2023Review
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
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Abstract
22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart disease (CHD), which can also include some combination of other features. Thus, the aim of this work was to verify the profile of dysmorphic features and heart defects found in patients referred to a reference center in Southern Brazil with clinical findings suggestive of 22q11.2DS. In the overall sample group, only patients with dysmorphic facial features (skull, eyes, ear, and nose) associated with CHD (obstructive pulmonary valve ring, truncus arteriosus, and bicuspid aortic valve associated with atrial septal defect and/or right aortic arch) had a 22q11.2 deletion. These findings proved to be reliable clinical criteria for referral to perform fluorescent
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