一个产前病例被误解为样本混:46,XY/46,XY混:
Lin Chen1,2, Li Wang1,2, Yang Zeng1,2
1Department of Medical Genetics / Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Block 3 No. 20, Ren Min Nan Road, Wuhou District, Chengdu, 610041, China.
BMC pregnancy and childbirth
|February 12, 2024
概括
在一个胎儿身上发现了四合金化症,这是一种来自融合胚胎的罕见疾病. 遗传分析揭示了羊水中不同的基因型,但新生儿显示出正常的表型.
科学领域:
- 生殖生物学 生殖生物学
- 人类遗传学 人类遗传学
- 发展生物学 发展生物学
背景情况:
- 化学性源于两个杂质的融合,不同于由线粒错误引起的马赛克主义.
- 真正的人类幻象是非常罕见的,记录的案例有限.
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