Case Reports

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. TsengAffiliated withDepartment of Medical Genetics, College of Medicine, National Taiwan University
  • , S. -M. ChuangAffiliated withDepartment of Medical Genetics, College of Medicine, National Taiwan University
  • , T. -Y. LeeAffiliated withDepartment of Medical Genetics, College of Medicine, National Taiwan UniversityDepartment of Obstetrics and Gynecology, College of Medicine, National Taiwan University
  • , Tsang-Ming KoAffiliated withDepartment of Medical Genetics, College of Medicine, National Taiwan UniversityDepartment of Obstetrics and Gynecology, College of Medicine, National Taiwan University

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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