title: Presentation and treatment of subfertile men with balanced translocations: the cleveland clinic experience.
abstract: BACKGROUND
  Balanced chromosomal translocations are a relatively common (2-7%) finding among infertile couples. We report clinical features of males with translocations at our institution.
  
  
  METHODS
  Data was collected on men presenting for infertility evaluation between July 2006 March 2010, including presentation, medical history, and infertility treatments. Criteria for genetic evaluation, consisting of karyotype and Y-linked microdeletion assay, included severe oligozoospermia or azoospermia (sperm concentration < 2.5×106/ml) or a history of recurrent miscarriages.
  
  
  RESULTS
  Of the 4,612 patients in our male infertility clinic 306 met criteria for genetic evaluation. Three patients had a balanced translocation, of which 2 had Robertsonian translocations, and 1 had a balanced translocation. One patient had normal bulk semen parameters, normal volume azoospermia, and oligoasthenoteratozoospermia. All patients were offered medical genetics consultation. Potential pregnancy outcomes were evaluated using a predictive software package. One patient had intratubular germ cell neoplasia and underwent orchiectomy; subsequent fertility evaluation has been deferred. The other 2 are considering in-vitro fertilization with pre-implantation genetic evaluation.
  
  
  CONCLUSIONS
  Given the low incidence of balanced translocations detected in our population, better clinical indicators other than semen parameters or history of recurrent pregnancy loss are needed to determine screening for this finding.
authors.affiliation: Center for Male Fertility, Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, USA.
authors.forename: Christina B
authors.initials: CB
authors.lastname: Ching
authors.affiliation: Center for Male Fertility, Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, USA.
authors.forename: Edmund
authors.initials: E
authors.lastname: Ko
authors.affiliation: OB/GYN & Women's Health Institute, Cleveland Clinic, Youngstown, USA.
authors.forename: Bryan
authors.initials: B
authors.lastname: Hecht
authors.affiliation: Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
authors.forename: Marissa
authors.initials: M
authors.lastname: Smith
authors.affiliation: Center for Male Fertility, Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, USA.
authors.forename: Edmund
authors.initials: E
authors.lastname: Sabanegh
keywords: Chromosomal aberrations; Gene; Infertility; Spermatogenesis