Browse > Article
http://dx.doi.org/10.3345/kjp.2009.52.2.242

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)
Publication Information
Clinical and Experimental Pediatrics / v.52, no.2, 2009 , pp. 242-246 More about this Journal
Abstract
The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.
Keywords
Mosaicism; Ring chromosome 13; Facial dysmorphism; Intrauterine growth restriction (IUGR);
Citations & Related Records
연도 인용수 순위
  • Reference
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