RECURRENT DOWNS-SYNDROME DUE TO MATERNAL OVARIAN TRISOMY-21 MOSAICISM

Authors
TSENG LH CHUANG SM LEE TY KO TM
Citation
Lh. Tseng et al., RECURRENT DOWNS-SYNDROME DUE TO MATERNAL OVARIAN TRISOMY-21 MOSAICISM, Archives of gynecology and obstetrics, 255(4), 1994, pp. 213-216
Citations number
18
Categorie Soggetti
Obsetric & Gynecology
Journal title
Archives of gynecology and obstetrics → ACNP
ISSN journal
09320067
Volume
255
Issue
4
Year of publication
1994
Pages
213 - 216
Database
ISI
SICI code
0932-0067(1994)255:4<213:RDDTMO>2.0.ZU;2-G
Abstract
A family with three children who had Down's syndrome and one healthy c hild is reported. Cytogenetic studies of the peripheral blood revealed trisomy 21 in the affected children, and normal karyotypes in both th e parents and the healthy child. However, a biopsy of the mother's rig ht ovary showed a mosaic trisomy 21 cell line (8/20 cells). By DNA pol ymorphism analysis, segregation of trisomy oogonia appeared to be the cause of recurrent trisomy 21.