ArticleIndian journal of pediatrics2006
Chromosome 22 microdeletion by F.I.S.H. in isolated congenital heart disease.
Article in Indian journal of pediatrics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 23 citations in OpenAlex.
- Exome sequencing uncovers promising candidate genes for foetal structural malformations.The Indian journal of medical research · 2025Article
- Emphasizing the need for preconceptional, prenatal genetic counseling and comprehensive genetic testing in consanguinity: challenges and experience.Molecular genetics and genomics : MGG · 2024Article
- Prevalence of associated extracardiac anomalies in prenatally diagnosed congenital heart diseases.PloS one · 2021Article
- 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
- Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.Pediatric cardiology · 2014Article
- Transcription factor pathways and congenital heart disease.Current topics in developmental biology · 2012Review
- Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.BMC pediatrics · 2010Article
- Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India.BMC medical genetics · 2010Article
- Posterior fossa infected dermoid with congenital heart disease: A novel hypothesis of an unusual association.Journal of pediatric neurosciencesArticle
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo analyze the frequency of del22q11.2 in non-syndromic CHDs using classical cytogenetics and Fluorescence In Situ Hybridization (FISH) technique in Indian population.
methods105 prospective cases which included 6 families with isolated, non-syndromic cardiac defects were analyzed clinically by a cardiologist and a geneticist. The cases were then subjected to karyotypic (classical cytogenetics) as well as FISH analysis. The efficacy of FISH technique was compared with inference drawn from classical cytogenetics.
resultsKaryotypic analysis of all the 105 patients revealed a normal chromosomal complement. Microdeletion 22q11.2 was observed in six patients (5.71%) by FISH studies. FISH studies were also performed on the parents of these six patients who revealed a normal chromosome 22. No correlation was found between clinical features (mild or unspecific) with 22q11.2 microdeletion.
conclusionThe testing for microdeletion 22q11.2 in isolated non-syndromic patients using FISH technique is mandatory even when mild/unspecific extracardiac abnormalities are seen in the patients.
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