ArticleHuman genetics1995
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot.
Article in Human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 124 citations in OpenAlex.
- Article
- Comparison of Postoperative, In-Hospital Outcomes After Complete Repair of Tetralogy of Fallot Between 22q11.2 Deletion Syndrome and Trisomy 21.Pediatric cardiology · 2022Article
- Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome.Head & face medicine · 2019Article
- 22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.Pediatric cardiology · 2018Article
- Etiology and clinical presentation of birth defects: population based study.BMJ (Clinical research ed.) · 2017Article
- Effect of 22q11.2 deletion on bleeding and transfusion utilization in children with congenital heart disease undergoing cardiac surgery.Pediatric research · 2016Article
- An integrative pipeline for multi-modal discovery of disease relationships.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing · 2015Article
- 22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot.The Journal of thoracic and cardiovascular surgery · 2013Article
- Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.European journal of pediatrics · 2013Article
- A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.European journal of human genetics : EJHG · 2013Article
- Chromosomal abnormalities among children born with conotruncal cardiac defects.Birth defects research. Part A, Clinical and molecular teratology · 2009Article
- Extracardiac features predicting 22q11.2 deletion syndrome in adult congenital heart disease.International journal of cardiology · 2008Article
- Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery.European journal of pediatrics · 2008Article
- Chromosome 22 microdeletion by F.I.S.H. in isolated congenital heart disease.Indian journal of pediatrics · 2006Article
- Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome).Images in paediatric cardiology · 2005Article
- Genetic analysis of chromosome 22q11.2 markers in congenital heart disease.Journal of clinical laboratory analysis · 2003Article
- 22q11 deletion syndrome: a genetic subtype of schizophrenia.Biological psychiatry · 1999Review
- Microdeletion 22q11 and oesophageal atresia.Journal of medical genetics · 1999Article
- A population study of chromosome 22q11 deletions in infancy.Archives of disease in childhood · 1998Article
- 22q11 deletion syndrome in adults with schizophrenia.American journal of medical genetics · 1998Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tetralogy of Fallot (TF) is a congenital conotruncal heart defect commonly found in DiGeorge (DGS) and velo-cardio-facial (VCFS) syndromes. The deletion of chromosome 22q11 (del22q11) is a well established cause of DGS and VCFS, and it has been demonstrated also in sporadic or familial cases of TF. In order to investigate the prevalence of del22q11 in patients with TF, we analyzed the DNA of 137 consecutive patients with syndromic and isolated TF, using the HD7k probe, which detects hemizygosity for the D22S134 locus. Del22q11 has been detected in 11/26 (42%) syndromic patients. Evidence for hemizygosity was obtained in all patients with DGS and in 8/15 patients with VCFS. None of the 107 patients with isolated TF had del22q11. Our experience suggests that children with TF and del22q11 always present major or minor extracardiac anomalies. These features, including subtle facial dysmorphisms, should be checked routinely in patients with TF and other conotruncal heart defects.
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