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

L. H. Tseng, S. M. Chuang, T. Y. Lee, Tsang Ming Ko

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


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]

Original languageEnglish (US)
Pages (from-to)213-216
Number of pages4
JournalArchives of Gynecology and Obstetrics
Issue number4
StatePublished - Dec 1994
Externally publishedYes


  • DNA polymorphism analysis
  • Mosaicism
  • Trisomy 21

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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