title: Genetic screening for chromosomal abnormalities and Y chromosome microdeletions in Chinese infertile men.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  This is a single center study. Karyotyping using G-banding and screening for Y chromosome microdeletion by multiplex polymerase chain reaction(PCR)were performed in 200 controls and 1,333 infertile men, including 945 patients with non-obstructive azoospermia and 388 patients with severe oligozoospermia.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Institute of Medical Genetics, Key Laboratory of Bio-resources and Eco-environment, Ministry of Education, College of Life Science, Sichuan University, Chengdu 610064, China.
authors.forename: Li
authors.initials: L
authors.lastname: Fu
authors.forename: Da-Ke
authors.initials: DK
authors.lastname: Xiong
authors.forename: Xian-Ping
authors.initials: XP
authors.lastname: Ding
authors.forename: Chuang
authors.initials: C
authors.lastname: Li
authors.forename: Li-Yuan
authors.initials: LY
authors.lastname: Zhang
authors.forename: Min
authors.initials: M
authors.lastname: Ding
authors.forename: Shuang-Shuang
authors.initials: SS
authors.lastname: Nie
authors.forename: Qiang
authors.initials: Q
authors.lastname: Quan
mesh_terms: D044466:Asian People / Q000235:genetics; D053713:Azoospermia / Q000235:genetics; D016022:Case-Control Studies; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D059785:Karyotype; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D009845:Oligospermia / Q000235:genetics; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development; D013091:Spermatogenesis / Q000235:genetics