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]
Original language | English (US) |
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Pages (from-to) | 213-216 |
Number of pages | 4 |
Journal | Archives of Gynecology and Obstetrics |
Volume | 255 |
Issue number | 4 |
DOIs | |
State | Published - Dec 1994 |
Externally published | Yes |
Keywords
- DNA polymorphism analysis
- Mosaicism
- Trisomy 21
ASJC Scopus subject areas
- Obstetrics and Gynecology