Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism.
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.
Tseng
L H
LH
Department of Medical Genetics, College of Medicine, National Taiwan University, Taipei, Republic of China.
Chuang
S M
SM
Lee
T Y
TY
Ko
T M
TM
D000328:Adult; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism / Q000235:genetics*; D009867:Oogonia / Q000473:pathology*; D010053:Ovary / Q000473:pathology; D011110:Polymorphism, Genetic