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在三合体21和三合体18中,与母亲年龄相关的性别偏差
Yun Pan1,2, Changshui Chen2, Haibo Li1,2
1The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University, Ningbo, China.
Birth defects research
|June 2, 2025
概括
观察到三发性病21 (唐氏综合征) 和三发性病18 (爱德华兹综合征) 患病率的性别差异,特别是在年轻的母亲中. 三重症21胎儿更常见于男性,而三重症18胎儿更常见于女性,而父亲的起源在年轻女性中起着作用.
科学领域:
- 遗传学 是一个遗传学.
- 生殖生物学 生殖生物学
- 围产儿医学 围产儿医学
背景情况:
- 调查三发性病21 (唐氏综合征) 和三发性病18 (爱德华兹综合征) 患病率的性别差异.
- 了解这些性别比差异背后的病因因素.
研究的目的:
- 分析三症21和三症18的性别比率模式,与母亲的年龄相关.
- 为了确定这些三症的染色体非分裂的父母起源.
主要方法:
- 追溯分析551例三发性病21例和154例三发性病18例,这些病例是通过羊水胆型定型和CMA (2005-2023) 诊断出来的.
- 与662,453名新生儿的对照组进行了性别比率分析.
- 定量光PCR (QF-PCR) 用于确定双胞胎的亲属起源.
主要成果:
- 三胞胎瘤21例显示男性与女性的比例高 (1.32),在20-25岁的母亲中达到1.84的峰值.
- 三胞胎瘤18个案例呈现出女性占主导地位 (0.67性别比),在25-30岁的母亲中最为明显.
- 孕产妇半月变异错误>90%;在35岁以下的孕产妇中,父系更为普遍,男性T21胎儿的发病率是孕产妇的2.5倍.
结论:
- 显著的年龄取决于性别偏见观察到三发性病21和18的流行率.
- 在年轻的母亲 (≤35岁) 中,男性三症21胎的发病率较高.
- 研究结果表明染色体非分裂的机制不同,受母亲年龄和父母出身的影响.
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