title: Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man.
abstract: OBJECTIVE
  To better define an abnormal karyotype found in a male with primary infertility.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Molecular and cytogenetics unit in a university-affiliated hospital.
  
  
  METHODS
  A 41-year-old, azoospermic, but otherwise healthy male.
  
  
  METHODS
  Lymphocytic karyotype and genetic counseling.
  
  
  METHODS
  Metaphases were studied by standard G- and Q-banding, followed by fluorescence in situ hybridization (FISH) and polymerase chain reaction to analyze specific Y chromosome regions.
  
  
  RESULTS
  Chromosomal analysis and FISH allowed us to define the propositus's karyotype as 45,X/46,X,idic(Yp)/46,XY (71%, 26%, and 3% of analyzed metaphases, respectively). Molecular analysis of azoospermic factor (AZF) regions showed deletion of AZFb and AZFc.
  
  
  CONCLUSIONS
  A 45,X/46,X,idic(Yp) mosaicism is associated with a very broad spectrum of phenotypes, including patients with Ullrich-Turner syndrome, patients with various degrees of genital ambiguity, or normal males. In the presence of a normal masculinization in otherwise healthy males azoospermia is a distinct feature that can be explained by partial deletion of AZF regions.
authors.affiliation: Azienda Ospedaliera Universitaria Pisana, Pisa, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Valetto
authors.forename: Veronica
authors.initials: V
authors.lastname: Bertini
authors.forename: Erika
authors.initials: E
authors.lastname: Rapalini
authors.forename: Fulvia
authors.initials: F
authors.lastname: Baldinotti
authors.forename: Daniela
authors.initials: D
authors.lastname: Di Martino
authors.forename: Paolo
authors.initials: P
authors.lastname: Simi
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D012729:Sex Chromosome Aberrations