由于母亲卵巢21号染色体三体性嵌合体导致的复发性唐氏综合征。
Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism.
作者信息
Tseng L H, Chuang S M, Lee T Y, Ko T M
机构信息
Department of Medical Genetics, College of Medicine, National Taiwan University, Taipei, Republic of China.
出版信息
Arch Gynecol Obstet. 1994;255(4):213-6. doi: 10.1007/BF02335088.
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.
报道了一个家庭，其中有三个患唐氏综合征的孩子和一个健康的孩子。外周血的细胞遗传学研究显示，患病儿童存在21三体，父母和健康孩子的核型均正常。然而，母亲右侧卵巢的活检显示存在一个21三体嵌合细胞系（8/20个细胞）。通过DNA多态性分析，三体性卵原细胞的分离似乎是21三体反复出现的原因。
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