Chromosomal disorders and male infertility

作     者：Gary L Harton Helen G Tempest 

作者机构：Reprogenetics Livingston NJ 07039 USA Department of Human and Molecular Genetics Herbert Wertheim College of Medicine Florida International University Miami FL 33132 USA 

出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)

年 卷 期：2012年第14卷第1期

页      面：32-39,175页

核心收录：

学科分类：10[医学] 

主　　题：chromosomal aneuploidy chromosomal translocation intracytoplasmic sperm injection in vitro fertilization male infertility non-disjunction preimplantation genetic diagnosis Y-chromosome microdeletion 

摘      要：Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered. Nevertheless, more and more genetic factors associated with infertility are being identified. This review will focus on our current understanding of the chromosomal basis of male infertility specifically： chromosomal aneuploidy, structural and numerical karyotype abnormalities and Y chromosomal microdeletions. Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans. Aneuploidy is predominantly maternal in origin, but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts. Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm. Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed, as well as the application of preimplantation genetic diagnosis （PGD） in such cases. Clinical recommendations where possible will be made, as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.