非整倍体中的母龄效应：胚胎选择改变是否起作用？
Maternal-age effect in aneuploidy: does altered embryonic selection play a role?
作者信息
Aymé S, Lippman-Hand A
出版信息
Am J Hum Genet. 1982 Jul;34(4):558-65.
Abstract
The age of mothers of children with trisomy 21 (47,+21) is elevated no matter if the extra chromosome is of maternal or paternal origin, and it has been postulated that decreasing maternal selection against affected conceptuses with advancing age might explain this observation. Since the absence of sufficient data on 47,+21 abortuses precludes a direct test of this hypothesis, we have taken an indirect approach. Pooled data from spontaneous abortions and live births with autosomal trisomies, XXY and XXX, were examined to determine the natural history of these aneuploid conceptuses and its relation to maternal age. The results are consistent with decreasing embryonic selection in older women.
摘要
无论21三体综合征（47，+21）患儿的额外染色体来自母亲还是父亲，其母亲的年龄都偏高，并且据推测，随着年龄增长母亲对受影响胎儿的选择减少可能可以解释这一现象。由于缺乏关于47，+21流产儿的充分数据，无法直接验证这一假设，因此我们采用了间接方法。对来自自然流产和患有常染色体三体、XXY和XXX的活产儿的汇总数据进行了检查，以确定这些非整倍体胎儿的自然史及其与母亲年龄的关系。结果与老年女性胚胎选择减少一致。
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