Incidences of micro-deletion/duplication 22q11.2 detected by multiplex ligation-dependent probe amplification in patients with congenital cardiac disease who are scheduled for cardiac surgery | Cardiology in the Young | Cambridge Core (original) (raw)

Type

Original Article

Copyright

Copyright © Cambridge University Press 2009

References

3.McDonald-Mcginn, DM, Kirschner, R, Goldmuntz, E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999; 10: 11–24.Google ScholarPubMed

4.Kyburz, A, Bauersfild, U, Schinzel, A, et al. The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome. Pediatr Cardiol 2008; 29: 76–83.CrossRefGoogle ScholarPubMed

5.Weismann, CG, Gelb, BD. The genetics of congenital heart disease: a review of recent developments. Curr Opin Cardiol 2007; 22: 200–206.CrossRefGoogle ScholarPubMed

6.Jalali, GR, Vorstman, JAS, Errami, A, et al. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum Mutat 2008; 29: 433–440.CrossRefGoogle ScholarPubMed

7.Fernández, L, Lapunzina, P, Arjona, D, et al. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin Genet 2005; 68: 373–378.CrossRefGoogle ScholarPubMed

8.Yi, L, Xu, ZF, Mo, XM, et al. New tetranucleotide STRP markers for detecting the 22q11.2 deletion. Mol Cell Prob 2006; 20: 359–365.CrossRefGoogle ScholarPubMed

9.Hu, YL, Zheng, MM, Xu, ZF, Wang, XR, Cui, HM. Quantitative real-time PCR technique for rapid prenatal diagnosis of Down syndrome. Prenat Diagn 2004; 24: 704–707.CrossRefGoogle ScholarPubMed

10.Janssen, B, Hartmann, C, Scholz, V, Jauch, A, Zschocke, J. MLPA analysis for the detection of deletions, duplications, and complex rearrangements in the dystrophin geen: potential and pitfalls. Neruogenenetics 2005; 6: 29–35.CrossRefGoogle Scholar

11.Stachon, AC, Baskin, B, Smith, AC, et al. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am J Med Genet 2007; 143A: 2924–2930.CrossRefGoogle ScholarPubMed

12.Zhang, XQ, Xu, ZF, Yi, L, et al. Rapid detection of 22q11 micro-deletion with quantitative real-time polymerase chain reaction. J Appl Clin Pediatr 2006; 21: 1409–1410.Google Scholar

13.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: 101–107.CrossRefGoogle ScholarPubMed