title: Genetic reproductive risk in inversion carriers.
abstract: OBJECTIVE
  To evaluate the risk of four inversion carriers for producing unbalanced gametes.
  
  
  METHODS
  Prospective analysis of sperm nuclei by fluorescence in situ hybridization (FISH).
  
  
  METHODS
  Universitat Autònoma de Barcelona.
  
  
  METHODS
  Four inversion carriers.
  
  
  METHODS
  A semen sample from each patient was collected and prepared for FISH.
  
  
  METHODS
  The segregation outcome of each inversion was analyzed. The presence of interchromosomal effects (ICE) on chromosomes 13, 18, 21, X, and Y was also evaluated.
  
  
  RESULTS
  A variable production of unbalanced gametes, which implies a heterogeneous behavior of the inversions, was detected. This variability seems to be directly related to the size of the inversion, indicating that the production of recombinant gametes in inversion carriers would not be relevant when the inverted segment is smaller than 100 Mbp.
  
  
  CONCLUSIONS
  Inversions have a well-defined reproductive effect on carriers. Carriers of inversions up to 100 Mbp have a low [corrected] reproductive risk and would not usually benefit from preimplantation genetic diagnosis.
authors.affiliation: Unitat de Biologia Cellular, Facultat de Ciéncies, Universitat Autònoma de Barcelona, Bellaterra, Spain.
authors.forename: Ester
authors.initials: E
authors.lastname: Anton
authors.forename: Francesca
authors.initials: F
authors.lastname: Vidal
authors.forename: Josep
authors.initials: J
authors.lastname: Egozcue
authors.forename: Joan
authors.initials: J
authors.lastname: Blanco
mesh_terms: D000328:Adult; D007446:Chromosome Inversion; D020090:Chromosome Segregation; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D004171:Diploidy; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008540:Meiosis; D008875:Middle Aged; D012730:Sex Chromosomes; D013094:Spermatozoa / Q000166:cytology / Q000502:physiology