title: [Y chromosome microdeletions: detection in 1 052 infertile men and analysis of 14 of their families].
abstract: OBJECTIVE
  To investigate the characteristics of father-to-son vertical transmission of Y chromosome microdeletions
  
  
  METHODS
  We detected the Y by detection of Y chromosome microdeletions in infertile men and analysis of some of their families. chromosome azoospermia factor (AZF) microdeletions in the peripheral blood of 1 052 infertile males, investigated the paternal relatives of 12 cases of AZFc, 1 case of AZFb and 1 case of AZFb + c microdeletions, and drew the family tree diagrams of the infertile paternal relatives according to the findings.
  
  
  RESULTS
  Among the 1 052 infertile patients, 89 (9.73%) were found with Y chromosomal microdeletions, including 56 with AZFc, 6 with AZFa, 5 with AZFb, 14 with AZFb + c, and 8 with AZFa + b + c deletion. The investigation of the 14 patients'families revealed 1 case of AZFb and 1 case of AZFb + c deletion de novo. Among the 12 cases of AZFc deletion, vertical heredity was found in 5 patients with severe oligozoospermia, but not in the other 7 with azoospermia.
  
  
  CONCLUSIONS
  AZFe deletion may be vertically inherited from the father in severe oligozoospermia patients, and it is different from the paternal phenotype, while in azoospermia patients, AZF deletion, whatever type it may be, is less likely to be associated with vertical paternal heredity.
authors.forename: Xiao-Bin
authors.initials: XB
authors.lastname: Zhu
authors.forename: Yun
authors.initials: Y
authors.lastname: Feng
authors.forename: Er-Lei
authors.initials: EL
authors.lastname: Zhi
authors.forename: Wei-Min
authors.initials: WM
authors.lastname: Fan
authors.forename: Ai-Jun
authors.initials: AJ
authors.lastname: Zhang
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D006801:Humans; D007248:Infertility, Male; D008297:Male; D008403:Mass Screening; D010375:Pedigree; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics*; D055815:Young Adult