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Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children

Publication Type : Journal Article

Publisher : Acta Paediatrica, International Journal of Paediatrics

Source : Acta Paediatrica, International Journal of Paediatrics, Volume 100, Number 9, p.e97-e100 (2011)

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Keywords : 22q11 Deletion Syndrome, aorta arch anomaly, article, Chi-Square Distribution, child, chromosome 2, chromosome 6, chromosome aberration, chromosome analysis, chromosome deletion 22q11, Chromosomes, clinical feature, Confidence Intervals, Congenital, congenital malformation, conotruncal malformation, cytogenetics, Developing countries, Fallot tetralogy, female, Fluorescence, fluorescence in situ hybridization, gene deletion, Genetic Variation, Heart Defects, high risk patient, human, Humans, In Situ Hybridization, India, Indian, infant, Logistic Models, major clinical study, male, multivariate logistic regression analysis, mutational analysis, newborn, Odds Ratio, Pair 22, patient identification, Predictive Value of Tests, preschool child, prevalence, priority journal, Prospective Studies, pulmonary valve atresia, risk assessment, X chromosome

Campus : Kochi

School : School of Medicine

Department : Biochemistry

Year : 2011

Abstract : Aim: To determine the frequency of chromosomal aberrations particularly 22q11 deletion in Indian children ≤2 years with different types of conotruncal malformations and their association with abnormal aortic arch. Additionally, extracardiac features were also studied. Methods: Conventional cytogenetic and fluorescence in situ hybridization analyses were performed in 254 patients with conotruncal defects. Multivariable logistic regression analysis was performed to ascertain extracardiac features helpful in identifying high-risk patients with deletion. Results: Chromosomal abnormalities were identified in 52 (21%) children, of whom 49 (94%) showed 22q11 deletion and 3 (6%) had abnormalities of chromosome 6, 2 and X. None of the 11/254 children with tetralogy of Fallot with absent pulmonary valve showed deletion. The association of 22q11 deletion with right sidedness of the aortic arch varied with the type of conotruncal defect. The eight extracardiac features in combination showed 93.5% agreement with the presence of deletion. Conclusion: The extracardiac features along with specific type of conotruncal defect and associated cardiovascular anomaly should alert the clinician for 22q11 deletion testing. However, if deletion analysis is not possible, specific extracardiac features (six dysmorphic facial features, thin long fingers and hypocalcemia) can help to identify an increased risk of 22q11 deletion in patients with conotruncal defect. © 2011 The Author(s)/Acta Pediatrica © 2011 Foundation Acta Pædiatrica.

Cite this Research Publication : D. M. Vasudevan, Anilkumar, A., Kappanayil, M., Thampi, M. V., Nampoothiri, S., and Sundaram, K. R., “Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children”, Acta Paediatrica, International Journal of Paediatrics, vol. 100, pp. e97-e100, 2011.

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