Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 4 , Pages 403-407 , December 2009

Down Syndrome Due to Unbalanced Homologous Acrocentric Rearrangements and its Recurrence in Subsequent Pregnancies: Prenatal Diagnosis by 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, Taichung, Taiwan
    • School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, 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
    • ,
  • Fuu-Jen Tsai

      Affiliations

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

      Affiliations

    • Department of Obstetrics and Gynecology, Taipei, Taiwan
    • ,
  • Shu-Shien Chiang

      Affiliations

    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • ,
  • Chen-Chi Lee

      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 22 October 2009.

References 

  1. Bandyopadhyay R, McCaskill C, Knox-Du Bois C, Zhou Y, Berend SA, Bijlsma E, et al. Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome . Am J Med Genet A . 2003;116A:159–163
  2. Chen CP , Lin CJ , Wang W , the Taiwan Amniocentesis Collaborative Study Group  . Impact of second-trimester maternal serum screening on prenatal diagnosis of Down syndrome and the use of amniocentesis in the Taiwanese population . Taiwan J Obstet Gynecol . 2005;44:31–35
  3. Shaffer LG , McCaskill C , Haller V , Brown JA , Jackson-Cook CK . Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome . Am J Med Genet . 1993;47:1218–1222
  4. Robinson WP , Bernasconi F , Basaran S , et al.   A somatic origin of homologous Robertsonian translocations and isochromosomes . Am J Hum Genet . 1994;54:290–302
  5. Antonarakis SE , Adelsberger PA , Petersen MB , Binkert F , Schinzel AA . Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations . Am J Hum Genet . 1990;47:968–972
  6. Rothlisberger B , Schinzel A , Kotzot D . A new molecular approach to investigate origin and formation of structural chromosome aberrations . Chromosome Res . 2000;8:451–453
  7. Kovaleva NV , Shaffer LG . Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes . Am J Med Genet . 2003;121A:180–187
  8. Grasso M , Giovannucci Uzielli ML , Pierluigi M , Tavellini F , Perroni L , Dagna Bricarelli F . Isochromosome not translocation in trisomy 21q21q . Hum Genet . 1989;84:63–65
  9. Shaffer LG , Jackson-Cook CK , Meyer JM , Brown JA , Spence JE . A molecular genetic approach to the identification of isochromosomes of chromosome 21 . Hum Genet . 1991;86:375–382
  10. 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
  11. Shaw SW , Chen CP , Cheng PJ , et al.   Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome . J Hum Genet . 2008;53:136–143
  12. Steinberg C , Zackai EH , Eunpu DL , Mennuti MT , Emanuel BS . Recurrence rate for de novo 21q21q translocation Down syndrome: a study of 112 families . Am J Med Genet . 1984;17:523–530
  13. Mark HFL , Mendoza T , Abuelo D , Beauregard LJ , May JB , LaMarche PH . Reproduction in a woman with low percentage t(21q21q) mosaicism . J Med Genet . 1977;14:221–223
  14. Jacobs PA , Mayer M , Rudak E . Structural chromosome abnormalities in Down syndrome: a study of two families . Cytogenet Cell Genet . 1978;20:185–193
  15. Wilroy RS , Summitt RL , Martens P . Reproduction in a woman with mosaicism . J Med Genet . 1978;15:406–407
  16. Croci G , Franchi F . Parental mosaicism in de novo translocation (21q21q) Down's syndrome . J Med Genet . 1991;28:502
  17. Yu CYC , Bonavita L , Anyane-Yeboa K , Brown SA , Krishna M , Warburton D . Gonadal mosaicism for a Robertsonian translocation: a search for the best reproductive options for a couple with five spontaneous abortions . Am J Hum Genet . 1998;63(Suppl):A156
  18. Hall BD . Recurrence risk in de novo 21q21q translocation Down syndrome . Am J Med Genet . 1985;22:417–418

PII: S1028-4559(09)60331-4

doi: 10.1016/S1028-4559(09)60331-4

Taiwanese Journal of Obstetrics and Gynecology
Volume 48, Issue 4 , Pages 403-407 , December 2009

Article Tools