Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men

  • Li Fu
  • Da-Ke Xiong
  • Xian-Ping Ding
  • Chuang Li
  • Li-Yuan Zhang
  • Min Ding
  • Shuang-Shuang Nie
  • Qiang Quan



To investigate the frequency and type of both chromosomal abnormalities and Y chromosome microdeletions and analyze their association with defective spermatogenesis in Chinese infertile men.


This is a single center study. Karyotyping using G-banding and screening for Y chromosome microdeletion by multiplex polymerase chain reactio(PCR)were performed in 200 controls and 1,333 infertile men, including 945 patients with non-obstructive azoospermia and 388 patients with severe oligozoospermia.


Out of 1,333 infertile patients, 154(11.55%) presented chromosomal abnormalities. Of these, 139 of 945 (14.71%) were from the azoospermic and 15 of 388 (3.87%) from the severe oligozoospermic patient groups. The incidence of sex chromosomal abnormalities in men with azoospermia was 11.53% compared with 1.03% in men with severe oligozoospermia (P < 0.01). Also 144 of 1,333(10.80%) patients presented Y chromosome microdeletions. The incidence of azoospermia factor(AZF) microdeletion was 11.75% and 8.51% in patients with azoospermia and severe oligozoospermia respectively. Deletion of AZFc was the most common and deletions in AZFa or AZFab or AZFabc were found in azoospermic men. In addition, 34 patients had chromosomal abnormalities among the 144 patients with Y chromosome microdeletions. No chromosomal abnormality and microdeletion in AZF region were detected in controls.


There was a high incidence (19.80%) of chromosomal abnormalities and Y chromosomal microdeletions in Chinese infertile males with azoospermia or severe oligozoospermia. These findings strongly suggest that genetic screening should be advised to infertile men before starting assisted reproductive treatments.


Male infertility Chromosomal abnormality Y chromosome microdeletion Azoospermia Severe oligozoospermia 


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Li Fu
    • 1
  • Da-Ke Xiong
    • 1
  • Xian-Ping Ding
    • 1
  • Chuang Li
    • 1
  • Li-Yuan Zhang
    • 1
  • Min Ding
    • 1
  • Shuang-Shuang Nie
    • 1
  • Qiang Quan
    • 1
  1. 1.Institute of Medical Genetics, Key Laboratory of Bio-resources and Eco-environment, Ministry of Education, College of Life ScienceSichuan UniversityChengduChina

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