title: Diminished ovarian reserve in a woman with a balanced 13;21 translocation.
abstract: OBJECTIVE
  To present the a case of decreased ovarian reserve in a patient with a balanced 13;21 translocation.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Reproductive endocrinology and infertility practice in a university teaching hospital.
  
  
  METHODS
  A 33-year-old caucasian woman with primary infertility.
  
  
  METHODS
  Laboratory evaluation, hysterosalpingogram, karyotype analysis, semen analysis.
  
  
  METHODS
  Endocrinologic evaluation and genetic analysis.
  
  
  RESULTS
  A diagnosis of decreased ovarian reserve based upon laboratory evaluation with concomitant findings of a balanced translocation between the long arms of chromosomes 13 and 21.
  
  
  CONCLUSIONS
  A diagnosis of primary infertility secondary to decreased ovarian reserve of unknown etiology, but with karyotype evidence of a balanced autosomal translocation and a familial history of early menopause, suggested possible roles of autosomal genes in mechanisms of ovarian follicular attrition.
authors.affiliation: Department of Obstetrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
authors.forename: Nicole
authors.initials: N
authors.lastname: Kummer
authors.forename: J Ryan
authors.initials: JR
authors.lastname: Martin
authors.forename: Lubna
authors.initials: L
authors.lastname: Pal
mesh_terms: D000328:Adult; D002882:Chromosomes, Human, Pair 13; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006801:Humans; D007047:Hysterosalpingography; D007247:Infertility, Female / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D010053:Ovary / Q000503:physiopathology*; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D055101:Semen Analysis; D014178:Translocation, Genetic