ArticleBMC medical genetics2010
Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.
Article in BMC medical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Congenital Heart Defects and Dysmorphic Facial Features in Patients Suspicious of 22q11.2 Deletion Syndrome in Southern Brazil.Journal of pediatric genetics · 2020Article
- 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
- Phenotypic Variations in the 22q11 Deletion Syndrome - Study in a South Indian Population.Indian journal of pediatrics · 2016Article
- SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome.Scientifica · 2016Article
- 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
- Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.The Indian journal of medical research · 2013Article
- Article
- Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size.Molecular cytogenetics · 2012Article
- Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.BMC pediatrics · 2010Article
- Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study.Annals of pediatric cardiologyArticle
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4 authors.
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Abstract
backgroundThe 22q11.2 microdeletion syndrome is a common condition that is associated with cardiac as well as extra-cardiac manifestations. Its prevalence and manifestations from north India has not been reported. This study was designed to determine the prevalence and ability of clinical criteria to predict 22q11.2 microdeletion.
methodsA total of 146 cases of cardiac malformation requiring tertiary care at a teaching hospital were prospectively screened for 22q11.2 microdeletion using fluorescence in situ hybridization test. Detailed clinical information was obtained as per guidelines of Tobias, et al (1999).
resultsNine out of 146 patients (6.16%) was found to have 22q11.2 microdeletion. All the positive patients showed the presence of extra-cardiac features of 22q11.2 microdeletion syndrome. None of the cases with isolated cardiac defect were positive for microdeletion.
conclusionsIt seems that 22q11.2 microdeletion syndrome is over-suspected in children with isolated congenital heart defects. Screening for 22q11.2 microdeletion should be considered in those cardiac malformation cases which have extra-cardiac manifestations in the form of facial dysmorphism and hypocalcaemia.
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