참고문헌
- De Grouchy J, Turleau C. Clinical atlas of human chromosomes. 2nd ed. New York: John Wiley & Sons, 1984;292-7
- Morallo LM, Rosenblum H, Esterly KL, Johnson WD, Storlazzi JJ, Narvaez AC, et al. Trisomy 18 (Edward syndrome) in Delaware. Del Med J 1983;55:27
- Bundy AL, Saltzman DH, Pober B, Fine C, Emerson D, Doubilet PM. Antenatal sonographic findings in trisomy 18. J ultrasound Med 1986;5:361-4 https://doi.org/10.7863/jum.1986.5.7.361
- Van Dyke DC, Allen M. Clinical management considerations in long-term survivors with trisomy 18. Pediatrics 1990;85: 753-9
- Jones KL. Smith’s recognizable patterns of human malformation. 5th ed. Philadelphia: WB Saunders Co, 1997:14-7
- Golder N, Wilson G. Karyotype/phenotype controversy: genetics and molecular implications of alternative hypotheses. Am J Med Genet 1990;36:500-5 https://doi.org/10.1002/ajmg.1320360426
- Turleau C, de Grouchy J. Trisomy 18qter and trisomy mapping of chromosome 18. Clin Genet 1997;12:361-71 https://doi.org/10.1111/j.1399-0004.1977.tb00955.x
- Turleau C, Chavin-Colin F, Narbouton R, Asensi D, de Grouchy. Trisomy 18q-: trisomy mapping of chromosome 18 revisited. Clin Genet 1980;18:20-6 https://doi.org/10.1111/j.1399-0004.1980.tb01359.x
- Matsuoka R, Matsuyama S, Yamamoto Y, Kuroki Y, MatsuiI. Trisomy 18q: a case report and review of karyotype-phenotype correlations. Hum Genet 1981;57:78-82 https://doi.org/10.1007/BF00271173
- Muecke J, Trautmann U, Sandig K-R, Theile H. The crucial band for phenotype of trisomy 18. Hum Genet 1982;60:205 https://doi.org/10.1007/BF00569715
- Neu RL, Ortega CC, Barg GA, Pinto W, Gardener LI, Howell WM, et al. Inclusion of satellites in a 18/21 translocation shown by ammoniacal-silver staining (sat-banding) in a case of partial trisomy 18. J Med Genet 1976;13:520-2 https://doi.org/10.1136/jmg.13.6.520
- Fryns JP, Vinken L, Marien J, Van den Berghe H. Partial trisomy 18q12, due to intrachromosomal duplication, is not associated with typical 18 trisomy phenotype. Hum Genet 1979;46:341-4 https://doi.org/10.1007/BF00273319
- Niebuhr E. Down's syndrome: the possibility of a pathogenic segment on chromosome no 21. Humangenetik 1974;21:99- 101 https://doi.org/10.1007/BF00278575
- Park JP, WursterHill D, Andrews PA, Cooley WC, Graham JMJ. Free proximal trisomy 21 without the Down syndrome. Clin Genet 1987;32:342-8 https://doi.org/10.1111/j.1399-0004.1987.tb03299.x
- Korenberg JR, Kawashima H, Pulst SM, Ikeuchi T, Ogasawara N, Yamamoto K, et al. Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. Am J Hum Genet 1990;47:236-46
- Mewar R, Kline AD, Harrison W, Rojas K, Greenberg K, Overhauser J. Clinical and molecular evaluation of four patients with partial duplication of the long arm of chromosome 18. Am J Hum Genet 1993;53:1269-78
- Boghosian-Sell L, Mewar R, Harrison W, Shapiro RM, Zackai EH, Carey J, et al. Molecular mapping of the Edwards Syndrome phenotype to two noncontiguous regions on chromosome 18. Am J Hum Genet. 1994;55:476-83
- Kleczkowska A, Fryns JP, Buttiens M, De Bisschop F, Emmery L, Van den Berghe H. Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation. Clin Genet 1986;40:503-8 https://doi.org/10.1111/j.1399-0004.1986.tb01918.x