title: Fine mapping of re-arranged Y chromosome in three infertile patients with non-obstructive azoospermia/cryptozoospermia.
abstract: BACKGROUND
  Cytogenetically detectable aberrations of the Y chromosome, such as isodicentrics, rings or translocations are sometimes associated with male non-obstructive infertility. This report presents a detailed analysis of the clinical, cytogenetic and molecular data in three patients with a re-arranged Y chromosome.
  
  
  METHODS
  Patients A and B were azoospermic, whereas patient C was cryptozoospermic. All had a somatic mosaic karyotype including a population of 45,X cells and a cell line with a re-arranged Y chromosome. A molecular and FISH analysis of their re-arranged Y was undertaken, which specifically focussed on the presence of the AZFa, b and c regions.
  
  
  RESULTS
  The AZFa region was present in all the three patients. The AZFb and AZFc regions were absent in patients A and B, whereas, in patient C, the distal part of AZFb and the whole AZFc region were deleted. Moreover, in this patient, the AZF FISH analysis revealed a mosaicism for the size of the AZF deletion within the re-arranged Y, suggesting a progressive enlargement of the deletion during cell mitotic divisions.
  
  
  CONCLUSIONS
  This investigation allowed not only a more precise description of the abnormal Y, but also shed light on how this re-arrangement could be involved in the infertility phenotype.
authors.affiliation: INSERM, U823, Grenoble F-38706, France.
authors.forename: A K
authors.initials: AK
authors.lastname: Faure
authors.forename: I
authors.initials: I
authors.lastname: Aknin-Seifer
authors.forename: V
authors.initials: V
authors.lastname: Satre
authors.forename: F
authors.initials: F
authors.lastname: Amblard
authors.forename: F
authors.initials: F
authors.lastname: Devillard
authors.forename: S
authors.initials: S
authors.lastname: Hennebicq
authors.forename: J
authors.initials: J
authors.lastname: Chouteau
authors.forename: U
authors.initials: U
authors.lastname: Bergues
authors.forename: R
authors.initials: R
authors.lastname: Levy
authors.forename: S
authors.initials: S
authors.lastname: Rousseaux
mesh_terms: D053713:Azoospermia / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002874:Chromosome Mapping / Q000379:methods*; D041322:Chromosomes, Human, Y; D003582:Cytogenetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007246:Infertility / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D011995:Recombination, Genetic; D012729:Sex Chromosome Aberrations