title: Increased chromosome 16 disomy rates in human spermatozoa and recurrent spontaneous abortions.
abstract: OBJECTIVE
  To investigate if unexplained recurrent spontaneous abortions (RSA) are associated with increased rates of aneuploidy in spermatozoa of RSA partners ("RSA-men").
  
  
  METHODS
  Case-control study.
  
  
  METHODS
  Academic research center.
  
  
  METHODS
  Patients enrolled at the Hormone and Fertility Center and controls at the Department of Urology (LMU-Munich).
  
  
  METHODS
  Sperm samples of 11 partners of unexplained RSA cases evaluated for elevated diploidy and disomy levels of chromosomes 1-22, X, and Y by multicolor sperm fluorescence in situ hybridization (FISH).
  
  
  METHODS
  Aneuploidy rates obtained in RSA-men compared with controls from the literature and internally; an increase of the aneuploidy rate was considered statistically significant, when it differed ≥ 2 standard deviations from the mean baseline level in controls.
  
  
  RESULTS
  Our sperm FISH data on RSA men showed increased disomy rates for at least three chromosomes in more than 60% of patients but no statistically significant increase of the overall mean sperm disomy or diploidy rate. In particular, meiotic errors involving chromosome 16 contributed to increased sperm disomy in more than 60% of our patients.
  
  
  CONCLUSIONS
  These data suggest that among paternal meiotic errors nondisjunction of chromosome 16 might have similar relative influence on fetal aneuploidy compared with maternal chromosome 16 disomy.
authors: Institute of Human Genetics, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany.
authors: Michaela
authors: M
authors: Neusser
authors: Division of Gynecological Endocrinology and Reproductive Medicine, Department of Obstetrics and Gynecology, Ludwig Maximilian University of Munich, Munich, Germany.
authors: Nina
authors: N
authors: Rogenhofer
authors: Institute of Human Genetics, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany.
authors: Stephanie
authors: S
authors: Dürl
authors: Fertility Center, Augsburg, Germany.
authors: Robert
authors: R
authors: Ochsenkühn
authors: Department of Urology, Ludwig Maximilian University of Munich, Munich, Germany.
authors: Matthias
authors: M
authors: Trottmann
authors: Institute for Medical Informatics, Biometry and Epidemiology, Ludwig Maximilian University of Munich, Munich, Germany.
authors: Vindi
authors: V
authors: Jurinovic
authors: Institute of Human Genetics, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany.
authors: Ortrud
authors: O
authors: Steinlein
authors: Division of Gynecological Endocrinology and Reproductive Medicine, Department of Obstetrics and Gynecology, Ludwig Maximilian University of Munich, Munich, Germany.
authors: Viktoria
authors: V
authors: von Schönfeldt
authors: Institute of Human Genetics, University Hospital, Ludwig Maximilian University of Munich, Munich, Germany. Electronic address: stefan.mueller@med.uni-muenchen.de.
authors: Stefan
authors: S
authors: Müller
authors: Division of Gynecological Endocrinology and Reproductive Medicine, Department of Obstetrics and Gynecology, Ludwig Maximilian University of Munich, Munich, Germany.
authors: Christian J
authors: CJ
authors: Thaler
mesh_terms: D000026:Abortion, Habitual / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D000782:Aneuploidy; D016022:Case-Control Studies; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008540:Meiosis; D009630:Nondisjunction, Genetic; D011237:Predictive Value of Tests; D011247:Pregnancy; D012307:Risk Factors; D013094:Spermatozoa / Q000473:pathology*
keywords: Aneuploidy; chromosome; miscarriage; recurrent pregnancy loss; spermatozoa