ArticleEuropean journal of pediatrics1995
Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: a prospective study.
Article in European journal of pediatrics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 90 citations in OpenAlex.
- Comparison of Postoperative, In-Hospital Outcomes After Complete Repair of Tetralogy of Fallot Between 22q11.2 Deletion Syndrome and Trisomy 21.Pediatric cardiology · 2022Article
- 22q11.2 Deletion Status and Perioperative Outcomes for Tetralogy of Fallot with Pulmonary Atresia and Multiple Aortopulmonary Collateral Vessels.Pediatric cardiology · 2018Article
- Identification of ZFPM2 mutations in sporadic conotruncal heart defect patients.Molecular genetics and genomics : MGG · 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
- Surgical Results of Anomalous Origin of One Pulmonary Artery Branch from the Ascending Aorta.Pediatric cardiology · 2015Article
- Identification of novel significant variants of ZFPM2/FOG2 in non-syndromic Tetralogy of Fallot and double outlet right ventricle in a Chinese Han population.Molecular biology reports · 2014Article
- 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
- Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.Human molecular genetics · 2013Article
- Aortopulmonary window in infants.Heart views : the official journal of the Gulf Heart Association · 2012Article
- Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.Physiological genomics · 2010Article
- Chromosomal abnormalities among children born with conotruncal cardiac defects.Birth defects research. Part A, Clinical and molecular teratology · 2009Article
- CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.American journal of human genetics · 2002Article
- 22q11 deletion syndrome: a genetic subtype of schizophrenia.Biological psychiatry · 1999Review
- 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
- The incidence of a deletion in chromosome 22Q11 in sporadic and familial conotruncal heart disease.European journal of pediatrics · 1996Article
- Search for 22q11 deletion in non-syndromic conotruncal cardiac defects.European journal of pediatrics · 1996Article
- Chromosome 22q11 deletion in patients with truncus arteriosus.Pediatric cardiologyArticle
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6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent molecular studies have revealed that a 22q11 deletion is frequently detected in DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). As one of the major clinical manifestations in these three syndrome is conotruncal cardiac malformation, we prospectively studied the frequency of a 22q11 deletion in a group of patients with conotruncal cardiac malformation. Fluorescence in situ hybridization (FISH) analyses using N25 (D22S75) DiGeorge Chromosome Region probe were performed on 64 patients with conotruncal cardiac malformation, who visited our clinic from October 1993 to January 1994. Of the 64 patients studied, a 22q11 deletion was detected in 5 patients (7.8%): 3 out of 30 patients with tetralogy of Fallot, one of three with interruption of the aortic arch, and one hemitruncus patient. No deletion was found in 16 patients with complete transposition of the great arteries, 8 with double outlet right ventricle and 2 with aortopulmonary window. In these five patients with 22q11 deletion, patient 1 was clinically diagnosed as having DGS, patients 2 and 3 had CTAFS, and patient 4 had VCFS. Patient 5 could not be dysmorphologically evaluated. It was noteworthy that all patients with a 22q11 deletion, except a non-evaluated patient, had some symptoms DGS, CTAFS or VCFS, and that we failed to identify a non-syndromic 22q11 deletion positive patients in the present series' of 64 patients. Conclusion. This study suggests that it is advisable to bear 22q11 deletion in mind when a patient with conotruncal cardiac anomalies has some other features of DGS, VCFS or CTAFS.
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