Archives of Gynecology and Obstetrics

, Volume 255, Issue 4, pp 213–216

Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism

  • L. -H. Tseng
  • S. -M. Chuang
  • T. -Y. Lee
  • Tsang-Ming Ko
Case Reports

DOI: 10.1007/BF02335088

Cite this article as:
Tseng, L.H., Chuang, S.M., Lee, T.Y. et al. Arch Gynecol Obstet (1994) 255: 213. doi:10.1007/BF02335088

Abstract

A family with three children who had Down's syndrome and one healthy child is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both the parents and the healthy child. However, a biopsy of the mother's right ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA polymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.[/p]

Key words

Trisomy 21 Mosaicism DNA polymorphism analysis 

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • L. -H. Tseng
    • 1
  • S. -M. Chuang
    • 1
  • T. -Y. Lee
    • 1
    • 2
  • Tsang-Ming Ko
    • 1
    • 2
  1. 1.Department of Medical Genetics, College of MedicineNational Taiwan UniversityTaipeiTaiwan, Republic of China
  2. 2.Department of Obstetrics and Gynecology, College of MedicineNational Taiwan UniversityTaipeiTaiwan, Republic of China
  3. 3.National Taiwan University HospitalTaipeiTaiwan, Republic of China

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