title: Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome.
abstract: BACKGROUND
  It is unclear whether frequency of sperm aneuploidy is associated with risk of fathering children with trisomy.
  
  
  METHODS
  We recruited 36 families with a boy with Klinefelter syndrome (KS), interviewed the fathers about their exposures and medical history, received a semen sample from each father, and collected blood samples from the mother, father and child. We applied a multicolour fluorescent in-situ hybridization assay to compare the frequencies of sperm carrying XY aneuploidy and disomies X, Y and 21 in fathers of maternally and paternally inherited KS cases.
  
  
  RESULTS
  Inheritance of the extra X chromosome was paternal in 10 and maternal in 26 families. Fathers of paternal KS cases produced higher frequencies of XY sperm (P = 0.02) than fathers of maternal KS cases. After controlling for age, the major confounding variable, the difference between the two groups was no longer significant (P less-than-or-equal 0.2). Also, there were no significant differences between the parental origin groups for disomy X, Y or 21.
  
  
  CONCLUSIONS
  Men who fathered a child with a Klinefelter syndrome produced higher frequencies of XY sperm aneuploidy, which is explained, in part, by both paternal age and parent of origin.
authors.affiliation: School of Public Health, University of California, Berkeley, CA 94720, USA. eskenazi@uclink4.berkeley.edu
authors.forename: B
authors.initials: B
authors.lastname: Eskenazi
authors.forename: A J
authors.initials: AJ
authors.lastname: Wyrobek
authors.forename: S A
authors.initials: SA
authors.lastname: Kidd
authors.forename: X
authors.initials: X
authors.lastname: Lowe
authors.forename: D
authors.initials: D
authors.lastname: Moore
authors.forename: K
authors.initials: K
authors.lastname: Weisiger
authors.forename: M
authors.initials: M
authors.lastname: Aylstock
mesh_terms: D000328:Adult; D000782:Aneuploidy; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D005220:Fathers; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009035:Mothers; D010331:Paternal Age; D012044:Regression Analysis; D013094:Spermatozoa / Q000502:physiology*; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics