Journal of Genetic Medicine

  • 제8권1호
  • /
  • Pages.67-70
  • /
  • 2011
  • /
  • 1226-1769(pISSN)
  • /
  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
권호 표지
DOI QR코드

DOI QR Code

속발성 무월경 외 비정상 표현형이 없는 Trisomy 8 Mosaicism의 증례 보고

A Case of Trisomy 8 Mosaicism in a Patient with Secondary Amnorreha without Abnormal Phenotype

  • 강혜심 (제주대학교 의과대학 산부인과학교실) ;
  • 손영수 (제주대학교 의과대학 산부인과학교실) ;
  • 김성엽 (제주대학교 의과대학 산부인과학교실) ;
  • 박철민 (제주대학교 의과대학 산부인과학교실) ;
  • 심순섭 (제주대학교 의과대학 산부인과학교실)
  • Kang, Hye-Sim (Department of Obstetrics and Gynecology, Jeju National University, College of Medicine) ;
  • Son, Young-Soo (Department of Obstetrics and Gynecology, Jeju National University, College of Medicine) ;
  • Kim, Sung-Yob (Department of Obstetrics and Gynecology, Jeju National University, College of Medicine) ;
  • Park, Chul-Min (Department of Obstetrics and Gynecology, Jeju National University, College of Medicine) ;
  • Shim, Soon-Sup (Department of Obstetrics and Gynecology, Jeju National University, College of Medicine)
  • 투고 : 2011.05.15
  • 심사 : 2011.06.15
  • 발행 : 2011.03.01
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

체질성 8삼염색체 모자이시즘은 비교적 드문 염색체 이상으로 특이한 두개안면 모양 (변형 두개골, 돌출된 이마, 낮거나 변형된 귀), 골격계 기형, 심장 기형, 신장 기형, 잠복고환, 다양한 정도의 발달지체 등의 특징적인 표현형을 갖는다. 그 표현형과 세포유전학적 표현의 다양성 때문에 특정 질환이 생기기 전까지 진단이 늦어지기도 한다. 전형적인 표현형 없이 속발성 무월경을 동반한 28세 여성에서 발견된 체질성 8삼염색체 모자이시즘(47,XX,+8[9]/46,XX[41])을 보고한다.

Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare aneuploidy in humans with characteristic phenotypes including typical craniofacial feature (such as deformed skull, prominent forehead, low-set and/or dysplastic ears), skeletal malformation, cardiac anomaly, renal malformation, cryptochidism, varying degree of developemental delay. Due to the extremely variable phenotypic and cytogenetic expression, CT8M has gone undiagnosed in certain patients. We report a 28-year-old women with secondary amenorreha without characteristic CT8M phenotype. Chromosomal analysis showed a CT8M (47,XX,+8[9]/46,XX[41]).

키워드

참고문헌

  1. Chae HD, Kang EH, Chu HS, Kim CH, Kang BM, Chang YS. Clinical characteristics of amenorrhea according to the etiological classification. Korean J Obstet Gynecol 1999;42:975-80.
  2. TordanMA, Marques I, Rosendorff J, de Ravel TJ. Trisomy 8 mosaicism: a further five cases illustrating marked clinical and cytonenetic variability. Genet Couns 1998;9:139-46.
  3. Kim KR, Lee HY, Park CI. Potter syndrome in a fetus with Trisomy-8 mosaicism: Report of a case. Korean J Pathol 1986;20:336-42.
  4. Lee HR, Lee BG, Cho SC, Lee DY, Kim JS, Jin SU. A case of trisomy 8 mosaicism. J Korean Pediatr Soc 1992;35:845-50.
  5. Nam HK, Lee DA, Lee DA, Lee SJ. A case of mosaic trisomy 8. Korean J Pediatr Soc 1991;34:553-7.
  6. Cho HS, Lee CH, Kim KD, Lee ES. A case of constitutional Trisomy 8 Mosacisim. Youngnam Univ J Of Med 2005;22:241-6. https://doi.org/10.12701/yujm.2005.22.2.241
  7. Karadiam G, Buge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D, Grigoriadou M, et al. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism. Eur J Hum Genet 1998;6:432-8. https://doi.org/10.1038/sj.ejhg.5200212
  8. Zollino M, Genuardi M, Bajer J, Tornesello A, Mastrangelo S, Zampino G, et al. Constitutional trisomy 8 and myelodysplasia: Report of a case and review of the literature. Leuk Res 1995;19:733-6. https://doi.org/10.1016/0145-2126(95)00050-X
  9. Hullwy BJ, Hummwl M, Xook LL, Boys BK, Qwnfwe AL. Trisomy 8 mosaicism: selective advantage of normal cell vs. growth disadvantage of trisomy 8 cells. Am J Med Genet 2003;116:144-6.
  10. Habecker-Green F, Naeem R, Goh W, Pfluenger S, Nurray M, Cohn G. Reproduction in a patient with trisomy 8 mosaicism: case report and literature review. Am J Med Genet 1998;75:382-5. https://doi.org/10.1002/(SICI)1096-8628(19980203)75:4<382::AID-AJMG6>3.0.CO;2-S
  11. Shim HN, Yoon WJ, Oh BH. Cytogenetics of 87 patients with amenorrhea. Korean J Obstet Gynecol 1988;31:1266-72.