Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Cytogenetic evaluation of a patient with ring chromosome 9 presenting failure to thrive and developmental delay

성장부진과 발달지연을 보인 환아에서 확인된 환상 9번 염색체 1례의 세포유전학적인 연구

  • Park, Yun Mi (Department of Laboratory Medicine, Eulji University School of Medicine) ;
  • Nho, Han Nae (Department of Pediatrics, Eulji University School of Medicine) ;
  • Kim, Sook Za (Department of Korea Genetics Research Center) ;
  • Ahn, Young Min (Department of Pediatrics, Eulji University School of Medicine)
  • 박윤미 (을지의과대학교 을지병원 진단검사의학교실) ;
  • 노한내 (을지의과대학교 을지병원 소아과학교실) ;
  • 김숙자 (한국 유전학 연구소) ;
  • 안영민 (을지의과대학교 을지병원 소아과학교실)
  • Received : 2007.10.18
  • Accepted : 2008.02.15
  • Published : 2008.04.15
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Abstract

We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the subtelomere-specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34),ish r(9)(D9S913-,D9S325+). Failure to detect any hybridization of a probe for the subtelomeric sequences in the ring 9p terminal suggested that this ring arose from breakage in the distal short arm. The cytogenetic and FISH data in our case provided further evidence for the existence of a "complete ring" phenotype with incomplete subtelomeric sequences.

환상 염색체의 발생 기전은 염색체 말단 부분이 결손된 후 양 끝이 융합되거나 끝분절 염기서열이 앞뒤역순상동서열로 융합될 경우로 생각되고 있다. 환상 염색체는 세포 분열을 하는 동안 불안정하기 때문에 세포핵이 없는 딸세포의 사망률이 증가하게 되어 생존하는 세포수가 감소하고 성장 장애가 발생하게 된다. 표현형은 염색체 손실의 정도에 따라 다양하다. 저자들은 최초로 심각한 저신장을 주소로 내원한 환아의 염색체 검사상 환상 9번 염색체를 확인하였기에 이를 보고하는 바이다.

Keywords

References

  1. Zuffardi O, Danesino C, Poloni L, Pavesi F, Bianchi C, Gargantini L. Ring chromosome 12 and latent centromeres. Cytogenet Cell Genet 1980;28:151-7 https://doi.org/10.1159/000131525
  2. Cote GB, Katsantoni A, Deligeorgis D. The cytogenetic and clinical implication of a ring chromosome 2. Ann Genet 1981;24:231-5
  3. Kosztolanyi G. Does 'ring syndrome' exist? An analysis of 207 case reports on patients with a ring autosome. Hum Genet 1987;75:174-9 https://doi.org/10.1007/BF00591082
  4. Sigurdardottir S, Goodman BK, Rutbeg J. Thomas GH, Jabs EW. Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of 'complete ring' syndrome. Am J Med Genet 1999;87:384-90 https://doi.org/10.1002/(SICI)1096-8628(19991222)87:5<384::AID-AJMG3>3.0.CO;2-R
  5. Purandare SM, Lee J, Hassed S, Steele MI, Blackett PR, Mulvihill JJ, et al. Ring chromosome 9 [r(9)(p24q34)]: a report of two cases. Am J Med Genet A 2005;138:229-35
  6. Hess RO, Meisner LF. Apparent Prader-Willi phenotype in a woman with ring chromosome 9. Am J Med Genet 1987;3:133-8
  7. Inouye T, Matsuda H, Shimura K, Hamazaki M, Kikuta I, Iinuma K, Nakagome Y. A ring chromosome 9 in an infant with malformations. Hum Genet 1979;50:231-5 https://doi.org/10.1007/BF00399386
  8. Van Maldergeml, Avni F, Mossay B, Herens C, Verloes A, Gillerot Y. Ring chromosome 9 in a newborn male presenting with facial dysmorphia, hypospadias, and skeletal abnormalities. Genet Conus 1991;2:123-7
  9. Metaxotou-Stavridaki C, Kalpini-Mavrou A. ring chromosome 9 46,XY,r(9) in a male with ambiguous external genitalia. Hum Genet 1989;37:351-4 https://doi.org/10.1007/BF00393619
  10. Lanzi G, Fazzi E, Veggiotti P, Pagliano E, Garigio M, bonaglia C, et al. Ring chromosome 9: An atypical case. Brain Dev 1996;18:216-9 https://doi.org/10.1016/0387-7604(95)00144-1
  11. Manouvrier-Hanu S, Turck D, Gottrand F, Savary JB, Loeuille GA, Deminatti MM, Farriaux JP. Ring chromosome 9. Case report and review of the literature. Ann Genet 1988;31:250-3
  12. Stumm M, Kessel-Weiner E, Pascu F, Ottolenghi C, Theile U, Wieacker PF. Deletion of the DM-domain gene cluster in a fetus with ring chromosome 9 and sex reversal. Pediat Pathol Mol Med 2000;19:415-23 https://doi.org/10.1080/152279500750046179
  13. Sigurdadottir S, Goodman BK, Rutberg J. Thomas GH, Jabs EW, Geraghty MT. Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of 'Complete Ring' syndrome. Am J Med Genet 1999;87:384-90 https://doi.org/10.1002/(SICI)1096-8628(19991222)87:5<384::AID-AJMG3>3.0.CO;2-R
  14. Kosho T, Matsushima K, Sahashi T, Mitsui N, Fukushima Y, Sobajima H, Ohashi H. 'Ring syndrome' involving chromosome 2 confirmed by FISH analysis using chromosomespecific subtelomeric probes. Genet Conus 2005;16:65-70

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