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Meiosis and sex chromosome aneuploidy: how meiotic errors cause aneuploidy; how aneuploidy causes meiotic errors

机译:减数分裂和性染色体非整倍性:减数分裂错误如何导致非整倍性;非整倍性如何导致减数分裂错误

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摘要

As a group, sex chromosome aneuploidies - the 47,XXY, 47,XYY, 47,XXX and 45,X conditions - constitute the most common class of chromosome abnormality in human live-births. Considerable attention has been given to the somatic abnormalities associated with these conditions, but less is known about their meiotic phenotypes; that is, how does sex chromosome imbalance influence the meiotic process. This has become more important with the advent of assisted reproductive technologies, because individuals previously thought to be infertile can now become biological parents. Indeed, there are several recent reports of successful pregnancies involving 47,XXY fathers, and suggestions that cryopreservation of ovarian tissue might impart fertility to at least some Turner syndrome individuals. Thus, the possible consequences of sex chromosome aneuploidy on meiotic chromosome segregation need to be explored.
机译:作为一组,性染色体非整倍体-47,XXY,47,XYY,47,XXX和45,X条件-构成人类活产中最常见的染色体异常类别。人们对与这些疾病相关的体细胞异常给予了极大的关注,但对它们的减数分裂表型知之甚少。也就是说,性染色体不平衡如何影响减数分裂过程。随着辅助生殖技术的出现,这一点变得更加重要,因为以前被认为是不育的个体现在可以成为亲生父母。确实,最近有几篇成功怀孕的报道,涉及47,XXY位父亲,并且建议冷冻保存卵巢组织至少可以使某些特纳综合征患者具有生育能力。因此,需要探索性染色体非整倍性对减数分裂染色体分离的可能后果。

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