참고문헌
- Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet A 2009;149A:1712-21. https://doi.org/10.1002/ajmg.a.32957
- Fraccaro M, Lindsten J, Ford CE, Iselius L. The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet 1980;56:21-51. https://doi.org/10.1007/BF00281567
- Iselius L, Lindsten J, Aurias A, Fraccaro M, Bastard C, Bottelli AM, et al. The 11q;22q translocation: a collaborative study of 20 new casesand analysis of 110 families. Hum Genet 1983;64:343-55. https://doi.org/10.1007/BF00292366
- Lin AE, Bernar J, Chin AJ, Sparkes RS, Emanuel BS, Zackai EH. Congenital heart disease in supernumerary der(22),t(11;22) syndrome. Clin Genet. 1986;29:269-75.
- Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. Clustered 11q23 and 22q11 breakpoints and 3:1meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet 1999;65:1595-607. https://doi.org/10.1086/302666
- Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, et al. A common breakpoint on 11q23 in carriersof the constitutional t(11;22)translocation. Am J Hum Genet 1999;65:1608-16. https://doi.org/10.1086/302689
- Jun YS, So CH, Yu ST, Park DS, Cho EH, Oh YK. A case of supernumerary derivative(22) syndrome resulting from a paternal balanced translocation. J Korean Soc Neonatol 2010;17:127-31.
- Lee SH, Cho HC, Shin SK, Lee JI, Choi WJ, Lee SA, et al. A case of partialtrisomy 22 due to paternal 11;22 translocation, t(11;22)(q25;q13.1). Korean J Obstet Gynecol 2002;45:1601-5.
- Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. Der(22)t(11;22) resulting from a parental de novo translocation, adjacent 1 segregation and maternal heterodisomy of chromosome 22. J Med Genet 1996;33:952-6. https://doi.org/10.1136/jmg.33.11.952