Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism
Journal
Archives of Gynecology and Obstetrics
Journal Volume
255
Journal Issue
4
Pages
213-216
Date Issued
1994
Author(s)
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] ? 1994 Springer-Verlag.
Subjects
DNA polymorphism analysis; Mosaicism; Trisomy 21
SDGs
Other Subjects
adult; article; blood; blood analysis; clinical article; cytogenetics; dna polymorphism; down syndrome; female; human; karyotype; male; mosaicism; oocyte; ovary; recurrent disease; trisomy 21; Adult; Case Report; Down Syndrome; Female; Human; Mosaicism; Oogonia; Ovary; Polymorphism (Genetics)
Publisher
Springer-Verlag
Type
journal article