ArticleImages in paediatric cardiology2005
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).
Article in Images in paediatric cardiology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Advancement in Human Face Prediction Using DNA.Genes · 2023Pooled it
- Clinical and genetic characterization of patients with Digeorge syndrome: a single-center, first report from Sudan.BMC pediatrics · 2026Article
- Genetics of Congenital Heart Disease: A Narrative Review of Challenges and Strategies in Identifying Novel Genes.Cureus · 2025Review
- Comprehensive insights into health services accessibility and quality of life of families with individuals with 22q11.2 deletion syndrome in Brazil.Orphanet journal of rare diseases · 2024Article
- An Anterior Second Heart Field Enhancer Regulates the Gene Regulatory Network of the Cardiac Outflow Tract.Circulation · 2023Article
- Exploring pathway interactions to detect molecular mechanisms of disease: 22q11.2 deletion syndrome.Orphanet journal of rare diseases · 2023Article
- Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.Journal of neurodevelopmental disorders · 2023Article
- 22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.Molecular syndromology · 2023Article
- The Potential Role of Dysregulated miRNAs in Adolescent Idiopathic Scoliosis and 22q11.2 Deletion Syndrome.Journal of personalized medicine · 2022Review
- Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing.Journal of pediatric genetics · 2022Article
- An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis.Orphanet journal of rare diseases · 2022Article
- Late diagnosed DiGeorge syndrome in a 44-year-old female: a rare cause for recurrent syncopes in adulthood-a case report.European heart journal. Case reports · 2021Article
- Outcome after surgery for pulmonary atresia with ventricular septal defect, a long-term follow-up study.Acta paediatrica (Oslo, Norway : 1992) · 2021Article
- Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil.Journal of pediatric genetics · 2020Article
- Article
- A First Case Report of DiGeorge Syndrome from Ethiopia Highlights Challenges in Identifying and Treating Children with Primary T-Cell Deficiencies in Low Resource Settings.Case reports in immunology · 2020Article
- Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus.European journal of endocrinology · 2019Review
- Clozapine-induced myocarditis in an adolescent male with DiGeorge Syndrome.The mental health clinician · 2018Article
- Clinical variability of chromosome 22q11.2 deletion syndrome.Central-European journal of immunology · 2017Article
- Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects.Biology open · 2016Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present in 75% of patients with Del22. The most frequently seen cardiac malformations are "conotruncal" defects, including tetralogy of Fallot (TF), pulmonary atresia with ventricular septal defect (PA-VSD), truncus arteriosus (TA), interrupted aortic arch (IAA), and ventricular septal defect (VSD). The study of the specific "cardiac phenotype" in patients with Del22 shows that a particular cardiac anatomy can be identied in these subjects. In addition to CHD, various organ systems can be involved, so that a multidisciplinary approach is needed in the evaluation of patients with Del22.
Indexed as
Identifiers
22368650PMC3232571W2308007188What OpenQuestion holds
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.