Fertility and Sterility
Volume 90, Issue 5 , Pages 1680-1684 , November 2008

A healthy live birth after successful preimplantation genetic diagnosis for carriers of complex chromosome rearrangements

  • Chun Kyu Lim, M.S.

      Affiliations

    • Laboratory of Reproductive Biology and Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea
    • ,
  • Jae Won Cho, M.S.

      Affiliations

    • Laboratory of Reproductive Biology and Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea
    • ,
  • Jin Yeong Kim, M.D., Ph.D.

      Affiliations

    • Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea
    • ,
  • Inn Soo Kang, M.D., Ph.D.

      Affiliations

    • Department of Obstetrics and Gynecology, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea
    • ,
  • Sung Han Shim, Ph.D.

      Affiliations

    • Department of Medical Genetics, College of Medicine, Hanyang University, Seoul, Korea
    • ,
  • Jin Hyun Jun, Ph.D.

      Affiliations

    • Laboratory of Reproductive Biology and Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea
    • Corresponding Author InformationReprint requests: Jin Hyun Jun, Ph.D., Laboratory of Reproductive Biology and Infertility, Cheil General Hospital and Women's Healthcare Center, Kwandong University College of Medicine, 1-19 Mukjeong-dong, Jung-gu, Seoul, 100-380 Korea (FAX: 82-2-2265-5621).

Received 26 April 2007 ,Revised 7 August 2007 ,Accepted 7 August 2007.

References 

  1. Pai GS, Thomas GH, Mahoney W, Migeon BR. Complex chromosome rearrangements. Report of a new case and literature review. Clin Genet. 1980;18:436–444
  2. Kleczkowska A, Fryns JP, Van den Berghe H. Complex chromosomal rearrangements (CCR) and their genetic consequences. J Genet Hum. 1982;30:199–214
  3. Batista DAS, Tuck-Muller CM, Martinez JE, Kearns WG, Pearson PL, Stetten G. A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization. Hum Genet. 1993;92:117–121
  4. Batista DAS, Pai GS, Stetten G. Molecular analysis of a complex chromosomal rearrangement and a review of familial cases. Am J Med Genet. 1994;53:255–263
  5. Madan K, Nieuwint AWM, van Bever Y. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocation. Hum Genet. 1997;99:806–815
  6. Siffroi JP, Benzacken B, Straub B, Le Bourhis C, North MO, Curotti G, et al. Assisted reproductive technology and complex chromosomal rearrangements: the limits of ICSI. Mol Hum Reprod. 1997;3:847–851
  7. Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, et al. Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and chromosome 4. Proc Natl Acad Sci USA. 1988;85:9138–9142
  8. Lichter P, Cremer T, Borden J, Manuelidis L, Ward DC. Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum Genet. 1988;80:224–234
  9. Klever M, Grand-Ginbach C, Scherthan H, Schroeder-Kurth TM. Chromosomal in situ suppression hybridization after Giemsa banding. Hum Genet. 1991;86:484–486
  10. Patsalis PC, Evangelidou P, Charalambous S, Sismani C. Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity. Eur J Hum Genet. 2004;12:647–653
  11. Fridstrom M, Ahrlund-Richter L, Iwarsson L, Malmgren H, Inzunza J, Rosenlund B, et al. Clinical outcome of treatment cycles using preimplantation genetic diagnosis for structural chromosomal abnormalities. Prenat Diagn. 2001;21:781–787
  12. Munne S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online. 2002;24:183–196
  13. Otani T, Roche M, Mizuike M, Colls P, Escudero T, Munne S. Preimplantation genetic diagnosis significantly improves the pregnancy outcome of translocation carriers with a history of recurrent miscarriage and unsuccessful pregnancies. Reprod Biomed Online. 2006;13:869–874
  14. Lim CK, Jun JH, Min DM, Lee HS, Kim JY, Koong MK, et al. Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat Diagn. 2004;24:556–561
  15. Rooney DE, Czepulkowski BH. Human cytogenetics. A practical approach. Vol. 1. Constitutional analysis. New York: Oxford University Press; 1992;36–41
  16. Hopman AH, Ramaekers FC, Raap AK, Beck JL, Devilee P, van der Ploeq M, et al. In situ hybridisation as a tool to study numerical aberrations in solid bladder tumors. Histochemistry. 1988;89:307–316
  17. Coonen E, Dumoulin JCM, Ramaekers FC, Hopman AH. Optimal preparation of preimplantation embryo interphase nuclei for analysis by fluorescence in-situ hybridization. Hum Reprod. 1994;9:533–537
  18. Scriven PN, Handyside AH, Ogilvie CM. Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn. 1998;18:1437–1449
  19. Simopoulou M, Harper JC, Fragouli E, Mantzouratou A, Speyer BE, Serhal P, et al. Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome couples with chromosomal rearrangements. Prenat Diagn. 2003;23:652–662
  20. Pujol A, Benet J, Staessen C, Van Assche E, Campillo M, Egozcue J, et al. The importance of aneuploidy screening in reciprocal translocation carriers. Reproduction. 2006;131:1025–1035
  21. Joly-Helas G, de La Rochebrochard C, Mousset-Simeon N, Moirot H, Tiercin C, Romana SP, et al. Complex chromosomal rearrangement and intracytoplasmic sperm injection: a case report. Hum Reprod. 2007;22:1292–1297
  22. Peschka B, Leygraaf J, Hansmann D, Hansmann M, Schrock E, Ried T, et al. Analysis of a de novo complex chromosome rearrangement involving chromosomes 4, 11, 12 and 13 and eight breakpoints by conventional cytogenetic, fluorescence in situ hybridization and spectral karyotyping. Prenat Diagn. 1999;19:1143–1149
  23. Rothlisberger B, Kotzot D, Brecevic L, Koehler M, Balmer D, Binkert F, et al. Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes. Eur J Hum Genet. 1999;7:873–883
  24. Roland B, Lowry RB, Cox DM, Ferreira P, Lin CC. Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16. Clin Genet. 1993;43:117–121
  25. Zahed L, Der Kaloustian V, Batanian JR. Familial complex chromosome rearrangement giving rise to balanced and unbalanced recombination products. Am J Med Genet. 1998;79:30–34
  26. Lee MH, Park SY, Kim YM, Kim JM, Han JY, Kim MY, et al. Prenatal diagnosis of a familial chromosomal rearrangement involving chromosomes 5, 10, 16 and 18. Prenat Diagn. 2002;22:102–104

PII: S0015-0282(07)03159-7

doi: 10.1016/j.fertnstert.2007.08.016

Fertility and Sterility
Volume 90, Issue 5 , Pages 1680-1684 , November 2008

Article Tools

* Image Usage & Resolution