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Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China

  • Genetics
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Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

To detect incidences and the types of chromosomal abnormalities in Chinese men with infertility and determine chromosomal factors association with various phenotypes.

Methods

Semen analysis and karyotype analysis by G-banding were carried out in 4,659 idiopathic infertile males; additionally, multiplex PCR using nine specific sequence-tagged sites (STSs) was used to detect azoospermia factor (AZF) microdeletions in 412 patients with Y chromosomal abnormalities.

Results

Male infertility was divided into pregestational infertility, characterized by failure to produce a fertilized ovum, and gestational infertility, characterized by embryo loss after fertilization. The former can result from azoospermia, oligozoospermia or oligoasthenozoospermia syndrome, while the latter is associated with developmental early pregnancy loss, habitual miscarriage and stillbirth. Among 4,659 male patients, 412 (8.84 %) showed abnormal chromosomal karyotypes, including 314 (6.74 %) with sex chromosomal abnormalities and 98 (2.10 %) with autosomal abnormalities. The prevalences of numerical and structural abnormalities among patients with chromosomal abnormalities were 259/412 (62.86 %) and 153/412 (37.14 %), respectively. Furthermore, structural sex chromosomal abnormalities were represented by various phenotypic profiles (46,XX, 47,XYY and 45,X/46,XY), and a prevalence of AZF microdeletions of 19/79 (24.05 %). AZF microdeletions were highly associated with Y chromosomal abnormalities (P = 0.018).

Conclusion

Various chromosomal abnormalities that result in male infertility could affect spermatogenesis or embryonic development at different levels. Sex chromosomal and autosomal abnormalities were highly associated with pregestational and gestational infertility, respectively. AZF microdeletions may play an important role in lowering the stability of the Y chromosome.

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Acknowledgments

We would like to thank all the patients recruited for this study, especially the donors of DNA samples. We would also like to express our sincere gratitude to all the staff of the Andrology Laboratory for their excellent work. This work was kindly supported by funds from the National Population and Family Planning Commission of China (NO. 2011-GJKJS-07).

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Authors and Affiliations

  1. Center for Reproductive Medicine, First Bethune Hospital of Jilin University, Changchun, Jilin, 130021, China

    Dingyang Li, Hongguo Zhang, Ruixue Wang, Haibo Zhu, Linlin Li & Ruizhi Liu

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  1. Dingyang Li
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  2. Hongguo Zhang
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  3. Ruixue Wang
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  4. Haibo Zhu
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  5. Linlin Li
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  6. Ruizhi Liu
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Corresponding author

Correspondence to Ruizhi Liu.

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Capsule

AZF microdeletions are highly associated with Y chromosomal abnormalities. Sex chromosomal and autosomal abnormalities in men are prone to pregestational and gestational infertility respectively.

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Li, D., Zhang, H., Wang, R. et al. Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China. J Assist Reprod Genet 29, 829–836 (2012). https://doi.org/10.1007/s10815-012-9783-1

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  • DOI: https://doi.org/10.1007/s10815-012-9783-1

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