Investigation of DEL22 Frequency with Fluorescent In Situ Hybridization Method in Children with Conotruncal Heart Anomaly
Abstract views: 131 / PDF downloads: 109
DOI:
https://doi.org/10.5152/EurJTher.2022.21014Keywords:
Conotruncal heart defects, Del22, FISH, 22q11.2Abstract
Objective: Conotruncal heart defects represent 10%-15% of congenital heart diseases and mostly include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, and interrupted aortic arch.
Methods: This study aimed to investigate the prevalence of 22q11.2 deletion (Del22) with fluorescent in situ hybridization analysis among children followed with conotruncal heart defects. In 104 cases with conotruncal heart defects, the 22q11.2 region was screened for deletion through the fluorescent in situ hybridization analysis using a probe specific to this region.
Results: The fluorescent in situ hybridization analysis performed in patients with conotruncal heart defects showed that Del22 was present in 3 cases in Group I (70 pts) with isolated cardiopathy (4.3%), 2 cases in Group II (29 pts) with cardiopathy+dysmorphism (6.9%), 2 cases in Group III (2 pts) with cardiopathy+immunodeficiency+dysmorphism (100%), and 1 case in Group IV (3 pts) with cardiopathy+immunodeficiency (33.3%) (P < .05). Eight (7.5%) of 104 patients with conotruncal heart defects were found to have Del22.
Conclusions: The results obtained from the present study are compatible with the literature. The clinical manifestation of Del22 is extremely variable. With additional abnormalities such as immunodeficiency and dysmorphic features, Del22 positivity was increasing statistically.
Metrics
References
Derbent M, Yılmaz Z, Baltacı V, Saygılı A, Varan B, Tokel K. Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am J Med Genet A. 2003;116A(2):129-135.
Goldmuntz E, Clark BJ, Mitchell LE, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998;32(2):492-498.
Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. Congenital heart defects in patients with DiGeo rge/v eloca rdiof facial syndrome and del22q11. Genet Couns. 1999;10(1):25-33.
Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000;9(16):2421-2426.
Thomas JA, Graham JM. Chromosome 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr (Phila). 1997;36(5):253-266.
Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112(1 Pt 1):101-107.
Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020;184(1):64-72.
Alikaşifoğlu M, Malkoç N, Ceviz N, Ozme S, Uludoğan S, Tunçbilek E. Microdeletion of 22q11 (CATCH 22) in children with conotruncal heart defect and extracardiac malformations. Turk J Pediatr. 2000;42(3):215-218.
Giray O, Ulgenalp A, Bora E, et al. Congenital cardiac defects with 22q11 deletion. Turk J Pediatr. 2003;45(3):217-220.
Halder A, Jain M, Chaudhary I, Kabra M. Prevalence of 22q11.2 microdeletion in 146 patients with cardiac malformation in a referral hospital of North India. BMC Med Genet. 2010;11:101.
Beauchesne LM, Warnes CA, Connolly HM, et al. Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies. J Am Coll Cardiol. 2005;45(4):595-598.
Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet. 1993;30(10):813-817.
Fomin AB, Pastorino AC, Kim CA, Pereira CA, Carneiro-Sampaio M, Abe-Jacob CM. DiGeorge syndrome: a not so rare disease. Clinics (Sao Paulo). 2010;65(9):865-869.
Shprintzen RJ. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev. 2008;14(1):3-10.
Tobias ES, Morrison N, Whiteford ML, Tolmie JL. Towards earlier diagnosis of 22q11 deletions. Arch Dis Child. 1999;81(6):513-514.
Notarangelo L, Casanova JL, Conley ME, et al. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee meeting in Budapest, 2005. J Allergy Clin Immunol. 2006;117(4):883-896.
Downloads
Published
How to Cite
Issue
Section
License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
The content of this journal is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.