A case of mosaic ring chromosome 13 syndrome |
Kim, Soo Young
(Department of Pediatrics, Chonnam National University Medical School)
Oh, Soo Min (Department of Pediatrics, Chonnam National University Medical School) Kim, Mi Jeong (Department of Pediatrics, Chonnam National University Medical School) Song, Eun Song (Department of Pediatrics, Chonnam National University Medical School) Kim, Young Ok (Department of Pediatrics, Chonnam National University Medical School) Choi, Young Youn (Department of Pediatrics, Chonnam National University Medical School) Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School) Hwang, Tai Ju (Department of Pediatrics, Chonnam National University Medical School) |
1 | Park SL, Im HJ, Shin JH, Lee H, Lyu MS, Paik YK. A case of D13 ring chromosome syndrome. J Korean Pediatr Soc 1992;35:713-7 |
2 | Cote GB, Katsantoni A, Deligeorgis D. The cytogenetic and clinical implications of a ring chromosome 2. Ann Genet 1981;24:231-5 PUBMED ScienceOn |
3 | Kenneth LJ. Smith's recognizable patterns of human malformation. 6th ed. Philadelphia: WB Saunders Co, 2006:56-7 |
4 | Simpson JL. Principles of human genetics. In:Reece EA, Hobbins JC, Mahoney MJ, Petrices RH, editors. Medicine of the fetus & mothers. 1st ed. Philadelphia:J.B.Lippincott Co, 1992:405 |
5 | Hoo JJ, Obermann U, Cramer H. The behavior of ring chromosome 13. Humangenetik 1974;24:161-71 DOI PUBMED |
6 | Niebuhr E, Ottosen J. Ring chromosome D (13) associated with multiple congenital malformations. Ann Genet 1973;16: 157-66 PUBMED ScienceOn |
7 | Lee JH, LEE JH, Chun CS. A case of ring chromosome 13 syndrome with jejunal atresia and hearing loss. J Korean Soc Neonatol 2006;13:149-53 |
8 | Martin NJ, Harvey PJ, Pearn JH. The ring chromosome 13 syndrome. Hum Genet 1982;61:18-23 DOI PUBMED |
9 | Brandt CA, Hertz JM, Petersen MB, Vogel F, Noer H, Mikkelsen M. Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q. J Med Genet 1992;29: 704-8 DOI PUBMED |
10 | Lorentz CP, Jalal SM, Thompson DM, Babovic-Vuksanovic D. Mosaic r (13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies. Am J Med Genet 2002;111:61-7 DOI ScienceOn |
11 | Lee JS, Jung YT, Lim BH, Kang IJ. A case of 13-ring chromosome syndrome. J Korean Pediatr Soc 1991;34:1736-9 |
12 | Francke U. 13q syndrome, Ring D chromosome. In:Nyhan WL, Sakati NO, editors. Genetics and malformation syndrome in clinical medicine. Chicago:Year Book Medical Publishers Inc. 1978:132-5 |
13 | Tommerup N, Lothe R. Constitutional ring chromosomes and tumour suppressor genes. J Med Genet 1992;29:879-82 DOI PUBMED |
14 | Brown S, Russo J, Chitayat D, Warburton D. The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 1995;57:859-66 PUBMED |
15 | Noel B, Quack B, Rethore MO. Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations. Clin Genet 1976;9:593-602 DOI PUBMED |
16 | Lee YH, Choi DW, Coe CJ, Kim KY. A case of multiple congenital abnormalities associated with ring chromosome 13. J Korean Pediatr Soc 1988;31:506-10 |
17 | Lee YA, Lee DG, Chung WK, Cho HC, Chi JG. An autopsy case of 13 ring chromosome syndrome. J Korean Soc Neonatol 1995;2:253-7 |
18 | Wang HC, Melnyk J, McDonald LT, Uchida IA, Carr DH, Goldberg B. Ring chromosomes in human beings. Nature 1962;195:733-4 DOI ScienceOn |
19 | Park CJ, Lim BI, Cho HJ, Song KY, Kim KW. A case of 13 ring chromosome syndrome. J Korean Child Neurol Soc 1998;5:383-7 |