title: The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type.
abstract: OBJECTIVE
  To study the chromosomal risk in sperm from Robertsonian translocation (RobT) carriers as a function of the sperm count and translocation type.
  
  
  METHODS
  Prospective study.
  
  
  METHODS
  Departments of reproductive biology, cytogenetics, gynecology, and obstetrics.
  
  
  METHODS
  A total of 29 RobT patients (8 normozoospermic and 21 oligozoospermic) and 20 46,XY patients (10 normozoospermic and 10 oligozoospermic).
  
  
  METHODS
  Sperm fluorescence in situ hybridization with probes for translocation malsegregation and chromosome 13, 18, 21, X, and Y probes for studying the interchromosomal effect (ICE).
  
  
  METHODS
  Translocation malsegregation and ICE aneuploidy rates.
  
  
  RESULTS
  In RobT carriers, the sperm translocation malsegregation rate was significantly lower in normozoospermic patients (9.7%) than in oligozoospermic patients (18.0%). Considering only oligozoospermic patients, sperm malsegregation rates were significantly lower for rob(14;21) than for rob(13;14) (11.4% vs. 18.9%). In turn, the rates were significantly lower for rob(13;14) than for rare RobTs (18.9% vs. 25.3%). In sperm from normozoospermic RobT, an ICE was suggested by higher chromosome 13 and 21 aneuploidy rates than in control sperm. Conversely, chromosome 13 and 21 sperm aneuploidy rates were lower in oligozoospermic RobT patients than in oligozoospermic 46,XY patients, but higher than in control subjects.
  
  
  CONCLUSIONS
  Both translocation type and sperm count influence the RobT malsegregation risk. Of the chromosomes analyzed (13, 18, 21, X, and Y), only chromosomes 13 and 21 were found to be associated with an ICE. Relative to the RobT effect, idiopathic alterations in spermatogenesis in 46,XY patients appear to be more harmful for meiosis.
authors.affiliation: Department of Reproductive Biology, Cytogenetics, Gynecology, and Obstetrics, Poissy, France. ferfouri.fatma@hotmail.fr
authors.forename: Fatma
authors.initials: F
authors.lastname: Ferfouri
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Selva
authors.forename: Florence
authors.initials: F
authors.lastname: Boitrelle
authors.forename: Denise Molina
authors.initials: DM
authors.lastname: Gomes
authors.forename: Antoine
authors.initials: A
authors.lastname: Torre
authors.forename: Martine
authors.initials: M
authors.lastname: Albert
authors.forename: Marc
authors.initials: M
authors.lastname: Bailly
authors.forename: Patrice
authors.initials: P
authors.lastname: Clement
authors.forename: François
authors.initials: F
authors.lastname: Vialard
mesh_terms: D000782:Aneuploidy; D016022:Case-Control Studies; D002869:Chromosome Aberrations / Q000706:statistics & numerical data; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D008297:Male; D008540:Meiosis / Q000235:genetics; D012307:Risk Factors; D013076:Sperm Count; D013094:Spermatozoa / Q000378:metabolism* / Q000502:physiology; D014178:Translocation, Genetic / Q000235:genetics / Q000502:physiology