Journal of Genetic Medicine

  • 제8권2호
  • /
  • Pages.135-138
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  • 2011
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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산전 진단에서 관찰된 8번과 22번 염색체 사이의 미세 전좌에 의한 8번 염색체 단완 위성체

Prenatal Diagnosis of a Satellited Chromosome 8p Results from a de novo Cryptic Translocation between Chromosomes 8 and 22

  • 오아름 (제일병원 의학연구소 유전학연구실) ;
  • 이봄이 (제일병원 의학연구소 유전학연구실) ;
  • 최은영 (제일병원 의학연구소 유전학연구실) ;
  • 류현미 (제일병원 의학연구소 유전학연구실) ;
  • 이승재 (미래와 희망 산부인과) ;
  • 정지예 (미래와 희망 산부인과) ;
  • 박소연 (제일병원 의학연구소 유전학연구실)
  • Oh, Ah-Rum (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Bom-Yee (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Choi, Ene-Yuong (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Ryu, Hyun-Mee (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center) ;
  • Lee, Seung-Jae (Miraewaheemang Obsterics and Gynecology) ;
  • Jung, Ji-Ye (Miraewaheemang Obsterics and Gynecology) ;
  • Park, So-Yeon (Laboratory of Medical Genetics, Cheil Medical Research Institute, Cheil General Hospital and Women's Healthcare Center)
  • 투고 : 2011.12.08
  • 심사 : 2011.12.20
  • 발행 : 2011.12.31
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초록

초산인 35세 산모가 고령 임신과 모체혈액선별검사 고위험군을 주소로 양수천자를 실시한 결과 8번 염색체의 단완에 위성체가 붙어 있는 것이 발견되었다. 부모 염색체 검사 결과 모두 정상으로 확인되어 태아에게서 관찰된 8ps현상은 de novo로 판단된다. FISH 검사로 좀 더 자세히 분석한 결과, 8번 염색체와 22번 염색체 사이에 미세한 전좌가 관찰되었다. 태아의 염색체 8번과 22번 사이의 de novo 전좌를 갖고 있었지만 절단 부위가 DNA의 단순 반복 부위이므로 표현형에 영향을 미칠 가능성은 높지 않을 것으로 추측되었고, 임신 기간 동안 초음파상 이상 소견은 관찰되지 않았다. 유전 상담을 통해 8번 염색체 단완의 미세 결실 가능성이 설명되었고, 부모의 결정에 따라 추가실험 없이 임신은 유지되었다. 그리고 38주에 정상 표현형의 남아가 분만되었다. 본 증례는 산전 진단에서 세포유전학적 검사로 8번 염색체 단완의 위성체만이 발견되었으나, 추가의 분자세포유전학적 진단으로 8번과 22번 염색체 단완 사이의 미세한 전좌를 확인하였다. 이처럼보다 정확하고 자세한 분자세포 유전학적 분석들이 산전 진단에서는 필요함을 시사한 사례였다.

The authors of the present study report the prenatal detection of a chromosomal abnormality with additional satellites on the distal short arm of chromosome 8. A 35-year-old woman was referred for amniocentesis because of her advanced maternal age and positive result for maternal serum screening test. Cytogenetic analysis of cultured amniocytes showed a satellite 8p chromosome. The satellite 8p chromosome was positive for nucleolus organizer region (NOR) staining. The parents' karyotypes were normal. Fluorescence in situ hybridization (FISH) study for metaphases of fetal amniocytes revealed a cryptic translocation of chromosomes 8p and 22p. The fetal karyotype was described as 46,XY,8ps.ish t(8;22)(p23.3;p11.2) (D8S504-;D8S504+)dn. The parents decided to continue the pregnancy and a phenotypically normal boy was born at 38 weeks of gestation. In case of de novo terminal NORs detected prenatally, more accurate cytogenetic and molecular analysis should be performed in order to rule out cryptic chromosomal rearrangement among other chromosomes.

키워드

참고문헌

  1. Chen CP, Chern SR, Lee CC, Chen WL, Wang W. Prenatal diagnosis of interstitially satellited 6p. Prenat Diagn 2004;24:430-33. https://doi.org/10.1002/pd.911
  2. Henman E. Wyandt and Vijay S. Tonk. Atlas of human chromosome heteromorphisms. 2004 Kluwer Academic Publishers 230p, 267p
  3. Prontera P, Aiello V, Toschi M, Turci A, Gruppioni R, Buldrini B et al. Prenatal diagnosis of a de novo satellite chromosome 18 (18ps) associated with 18p deletion. Genet Couns 2007;18:309-15
  4. Rujirabanjerd S, Suwannarat W, Sripo T, Dissaneevate P, Permsirivanich W, Limprasert P. De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation. Am J Med Genet A 2007;143:271-6.
  5. Faivre L, Radford I, Viot G, Edery P, Munnich A et al. Cerebellar ataxia and mental retardation in a child with an inherited satellite chromosome 4q. Ann Genet 2000; 43:35-8. https://doi.org/10.1016/S0003-3995(00)00016-2
  6. Kanafani S, Aboura A, Pipiras E, Carbillon L, Tabet AC, Largilliere C et al. Semilobar horoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype. Prenat Diagn 2007;27:279-84. https://doi.org/10.1002/pd.1639
  7. Basinko A, Douet-Guilbert N, Le Bris MJ, Parent P, Ansquer H, morel F et al. Molecular cytogenetic characterization of an 8p23-8p23.2 duplication derived from a maternal intrachromosomal insertion in a child with congenital heart malformation, delayed puberty, and learning disabilities. Am J Med Genet A 2008;146A:2950-4. https://doi.org/10.1002/ajmg.a.32522
  8. Fan YS, Siu VM. Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3-->p23.3 and a rearranged duplication of 8q 24.13-->qter. Am J Med Genet 2001;102;266-71. https://doi.org/10.1002/ajmg.1460
  9. Engelen JJ, Moog U, Evers JL, Dassen H, Albrechts JC, Hamers AJ. Duplication of chromosome region 8p23.1--> p23.3; a benign variant? Am J Med Genet 2000;91:18-21. https://doi.org/10.1002/(SICI)1096-8628(20000306)91:1<18::AID-AJMG3>3.0.CO;2-3
  10. de Pater JM, Govaerts LC, de Man SA, van der Sijs-Bos CJ, Christiaens GC, van Dam WM et al. Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniques. Prenat Diagn 2003;23: 747-51. https://doi.org/10.1002/pd.653
  11. Sanger TM, Olney AH, Zaleski D, Pickering D, Nelson M, Sanger WG et al. Cryptic duplication and deletion of 9q 34.3--> qter in an family with a t(9;22)(q34.3;p11.2). Am J Med Genet A 2005;138:51-5.
  12. Ki A, Rauen KA, Black LD, Kostiner DR, Sandberg PL, Pinkel D et al. Ring 21 chromosome and a satellite 1p in the same patient: novel origin for an ectopic NOR. Am J Med Genet A 2003;120A:365-9. https://doi.org/10.1002/ajmg.a.20236
  13. Chen CP, Devriendt K, Chern SR, Lee CC, Wang W, Lin SP. Prenatal diagnosis of inherited satellite non-acrocentric chromosomes. Prenat Diagn 2000;20:384-9. https://doi.org/10.1002/(SICI)1097-0223(200005)20:5<384::AID-PD817>3.0.CO;2-2