Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 4 , Pages 389-399 , December 2009

Unbalanced and Balanced Acrocentric Rearrangements Involving Chromosomes Other Than Chromosome 21 at Amniocentesis

  • Chih-Ping Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Biotechnology, Asia University, Taiwan, Taipei, Taiwan
    • School of Chinese Medicine, College of Chinese Medicine, China Medical University Taichung, Taipei, Taiwan
    • Institute of Clinical and Community Health Nursing, Taipei, Taiwan
    • Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Chih-Ping Chen, Department of Obstetrics and Gynecology, Mackay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei, Taiwan
    • ,
  • Schu-Rern Chern

      Affiliations

    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • ,
  • Pei-Chen Wu

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • ,
  • Fuu-Jen Tsai

      Affiliations

    • School of Chinese Medicine, College of Chinese Medicine, China Medical University Taichung, Taipei, Taiwan
    • Department of Medical Genetics, China Medical University Hospital, Taichung, Taiwan
    • Department of Medical Research, China Medical University Hospital, Taichung, Taiwan
    • ,
  • Chen-Chi Lee

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • ,
  • Dai-Dyi Town

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • ,
  • Wen-Lin Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • ,
  • Li-Feng Chen

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • ,
  • Meng-Shan Lee

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • ,
  • Chen-Wen Pan

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • ,
  • Wayseen Wang

      Affiliations

    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Bioengineering, Tatung University, Taipei, Taiwan

,Accepted 24 October 2009.

References 

  1. Hook EB . Rates of 47, + 13 and 46 translocation D/13 Patau syndrome in live births and comparison with rates in fetal deaths and at amniocentesis . Am J Hum Genet . 1980;32:849–858
  2. Jacobs PA , Hassold TJ , Henry A , Pettay D , Takaesu N . Trisomy 13 ascertained in a survey of spontaneous abortions . J Med Genet . 1987;24:721–724
  3. Bugge M , deLozier-Blanchet C , Bak M , et al.   Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases . Am J Med Genet A . 2005;132A:310–313
  4. Hook EB . Unbalanced Robertsonian translocations associated with Down's syndrome or Patau's syndrome: chromosome subtype, proportion inherited, mutation rates, and sex ratio . Hum Genet . 1981;59:235–239
  5. Gardner RJM , Sutherland GR . Parental age counseling and screening for fetal trisomy . In:  Gardner RJM ,  Sutherland GR editor. Chromosome Abnormalities and Genetic Counseling . 3rd edition. New York: Oxford University Press; 2004;p. 363–372
  6. Kotzot D . Prenatal testing for uniparental disomy: indications and clinical relevance . Ultrasound Obstet Gynecol . 2008;31:100–105
  7. Kotzot D , Utermann G . Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated . Am J Med Genet A . 2005;136A:287–305
  8. Shaffer LG , Agan N , Goldberg JD , Ledbetter DH , Longshore JW , Cassidy SB . American College of Medical Genetics statement of diagnostic testing for uniparental disomy . Genet Med . 2001;3:206–211
  9. Chen CP , Chern SR , Lee CC , Chen LF , Chuang CY , Chen MH . Prenatal diagnosis of de novo isochromosome 13q associated with microcephaly, alobar holoprosencephaly, and cebocephaly in a fetus . Prenat Diagn . 1998;18:393–398
  10. Chen CP . Identification of unexpected parental Robertsonian (13q;14q) translocations following prenatal sonographic detection of holoprosencephaly . Ultrasound Obstet Gynecol . 2002;20:304–305
  11. Shaffer LG . Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation . Prenat Diagn . 2006;26:303–307
  12. Gualandi F , Sensi A , Trabanelli C , Falciano F , Bonfatti A , Calzolari E . Prenatal UPD testing survey in Robertsonian translocations . Prenat Diagn . 2000;20:465–468
  13. Jay AM, Roberts E, Davies T, Barnes I, Curtis M, Healey K, et al. Prenatal testing for uniparental disomy (UPD) . Prenat Diagn . 2001;21:513
  14. Silverstein S , Lerer I , Sagi M , Frumkin A , Ben-Neriah Z , Abeliovich D . Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate . Prenat Diagn . 2002;22:649–651
  15. Berend SA , Horwitz J , McCaskill C , Shaffer LG . Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes . Am J Hum Genet . 2000;66:1787–1793
  16. Sensi A , Cavani S , Villa N , et al.   Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey . Prenat Diagn . 2004;24:647–652
  17. Eggermann T , Wolf M , Spaich C , et al.   Search for uniparental disomy 14 in balanced Robertsonian translocation carriers . Clin Genet . 1999;56:464–466
  18. Ruggeri A , Dulcetti F , Miozzo M , et al.   Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations . Prenat Diagn . 2004;24:997–1000
  19. Hassold T , Jacobs PA , Leppert M , Sheldon M . Cytogenetic and molecular studies of trisomy 13 . J Med Genet . 1987;24:725–732
  20. Shaffer LG , McCaskill C , Han JY , et al.   Molecular characterization of de novo secondary trisomy 13 . Am J Hum Genet . 1994;55:968–973
  21. Robinson WP, Bernasconi F, Dutly F, Lefort G, Romain DR, Binkert F, et al. Molecular studies of translocations and trisomy involving chromosome 13 . Am J Med Genet . 1996;61:158–163
  22. Boué A , Gallano P . A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses . Prenat Diagn . 1984;4:45–67
  23. Daniel A , Hook EB , Wulf G . Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories . Am J Med Genet . 1989;33:14–53
  24. Taylor AI . Autosomal trisomy syndrome: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome . J Med Genet . 1968;5:227–252
  25. Chen CP . Prenatal sonographic features of the fetuses in trisomy 13 pregnancies (I) . Taiwan J Obstet Gynecol . 2009;48:210–217
  26. Chen CP . Prenatal sonographic features of the fetuses in trisomy 13 pregnancies (II) . Taiwan J Obstet Gynecol . 2009;48:218–224

PII: S1028-4559(09)60329-6

doi: 10.1016/S1028-4559(09)60329-6

Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 4 , Pages 389-399 , December 2009

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