참고문헌
- Oskarsdóttir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 2004;89:148-51. https://doi.org/10.1136/adc.2003.026880
- Swillen A, Vogels A, Devriendt K, Fryns JP. Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitivebehavioral spectrum, and psychiatric complications. Am J Med Genet 2000;97:128-35. https://doi.org/10.1002/1096-8628(200022)97:2<128::AID-AJMG4>3.0.CO;2-Z
- Wilson DI, Burn J, Scambler P, Goodship J. DiGeorge syndrome: part of CATCH22. J Med Genet 1993;30:852-6. https://doi.org/10.1136/jmg.30.10.852
- Yamagishi H. The 22q11.2 deletion syndrome. Keio J Med 2002; 51:77-88 https://doi.org/10.2302/kjm.51.77
- Motzkin B, Marion R, Goldberg R, Shprintzen R, Saenger P. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr 1993;123:406-10. https://doi.org/10.1016/S0022-3476(05)81740-8
- Jouannic JM, Martinovic J, Bessieres B, Romana S, Bonnet D. Fluorescence in situ hybridization(FISH) rather than ultrasound for the evaluation of fetuses at risk for 22q11.2 deletion. Prenat Diagn 2003;23: 607-8. https://doi.org/10.1002/pd.657
- Levy-Mozziconacci A, Wernert F, Scambler P, Rouault F, Metras D, Kreitman B, et al. Clinical and molecular study of DiGeorge sequence. Eur J Pediatr 1994;153:813-20. https://doi.org/10.1007/BF01972889
- Cuneo BF. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 2001;13: 465-72 https://doi.org/10.1097/00008480-200110000-00014
- Pinkel D, Gray JW, Trask B, van den Engh G, Fuscoe J, van Dekken H. Cytogenetic analysis by in situ hybridization with fluorescently labeled nucleic acid probes. Cold Spring Harb Symp Quant Biol 1986;51:151-7. https://doi.org/10.1101/SQB.1986.051.01.018
- Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet 2000;9: 2421-6 . https://doi.org/10.1093/hmg/9.16.2421
- Driscoll DA, Budarf ML, Emanuel BS. Antenatal diagnosis of DiGeorge syndrome. Lancet 1991;338:1390-1.
- Agergaard P, Olesen C, Ostergaard JR, Christiansen M, Sorensen KM. Sorensen KM. The prevalence of chromosome 22q11.2 deletions in 2.478 children with cardiovascular malformations. A population-based study. Am J Med Genet A 2012;158A:498-508. https://doi.org/10.1002/ajmg.a.34250
- Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Zackai EH, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 1998;32:492-8. https://doi.org/10.1016/S0735-1097(98)00259-9
- Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, el al. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. J Med Genet 2010;47:321-31. https://doi.org/10.1136/jmg.2009.070391
- Momma K. Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 2010;105:1617-24. https://doi.org/10.1016/j.amjcard.2010.01.333
- Goldmuntz E. DiGeorge syndrome: New Insights. Clin Perinatol 2005;32:963-78. https://doi.org/10.1016/j.clp.2005.09.006
- Boudjemline Y, Fermont L, Le Bidois J, Villain E, Sidi D, Bonnet D. Can we predict 22q11 staus of fetuses with tetralogy of fallot? Prenat Diagn 2002;22:231-4. https://doi.org/10.1002/pd.295
- McElhinney DB, Clark BJ, Weinberg PM, Kenton ML, McDonald-McGinn D, Driscoll DA, et al. Association of chromosome 22q11.2 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 2001;37:2114-9. https://doi.org/10.1016/S0735-1097(01)01286-4
- Galindo A, Nieto O, Nieto MT, Rodríguez-Martín MO, Herraiz I, Escribano D, et al. Prenatal diagnosis of right aortic arch: associated findings, pregnancy outcome, and clinical significance of vascular rings. Prenat Diagn 2009;29:975-81. https://doi.org/10.1002/pd.2327
- Oh DC, Min JY, Lee MH, Kim YM, Park SY, Won HS, et al. Prenatal diagnosis of tetralogy of Fallot associated with chromosome 22q11 deletion. J Korean Med Sci 2002;17:125-8. https://doi.org/10.3346/jkms.2002.17.1.125