Paternal origin of trisomy 21 following intracytoplasmic sperm injection (ICSI)
Paternal origin of trisomy 21 following intracytoplasmic sperm injection (ICSI)
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DOI：
10.1093/humrep/13.12.3345
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发表时间：
1998-12-01
影响因子：
6.1
通讯作者：
Pauer, HU
中科院分区：
文献类型：
--
作者：
Bartels, I;Schlösser, M;Pauer, HU
关于胞浆内单精子注射（ICSI）相关遗传风险的争论的一个重要方面是，由此导致的怀孕中染色体异常率可能会增加。对一名27岁的弱畸形精子症男性和他25岁的妻子进行了ICSI。妊娠9周时发生自然流产。细胞遗传学检查显示21三体。两个多态性微卫星标记的分析表明，额外的染色体是父系。这与绝大多数三体孕体起源于母体的事实相反。识别通过ICSI实现的三体妊娠的起源父母可能会揭示ICSI是否与父源性非整倍体风险增加相关。
One important aspect in the debate on the genetic risks associated with intracytoplasmic sperm injection (ICSI) is the possible increased rate of chromosomal abnormalities in resulting pregnancies. ICSI was performed in a 27 year old man with asthenoteratozoospermia and his 25 year old wife. There was a spontaneous miscarriage at 9 weeks of gestation. Cytogenetic investigation revealed trisomy 21. Analysis of two polymorphic microsatellite markers showed that the additional chromosome was paternal. This is in contrast to the fact that the vast majority of trisomic concepti are maternal in origin. Identifying the parent of origin in trisomic conceptions achieved by ICSI may reveal whether ICSI is associated with an increased risk of paternally derived aneuploidy.