title: Premature ovarian failure with 46,XX,t(1;4)(p34.1;q34): first case report and literature review.
abstract: OBJECTIVE
  To describe the first case of premature ovarian failure with a reciprocal translocation between chromosomes 1 and 4 and to review all the related literature.
  
  
  METHODS
  A 39-year-old multigravida woman with secondary amenorrhea consulted for evaluation. High-resolution chromosomal evaluation, sonographic images of the reproductive organs and assessment of endogenous hormone production were performed.
  
  
  RESULTS
  We identified a de novo balanced translocation 46,XX, t(1;4)(p34.1;q34) in our premature ovarian failure patient without other abnormalities of reproductive organs.
  
  
  CONCLUSIONS
  Most of the cases of premature ovarian failure are associated with the X chromosome. To the best of our knowledge, only 23 cases of autosomal abnormalities associated with premature ovarian failure have been reported and our case was the first with translocation between chromosomes 1 and 4. The cause of late-onset premature ovarian failure in our case might be associated with the caspase-3 gene, which is located on chromosome 4q34 and controls follicle apoptosis.
authors.affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine Vajira Hospital, Navamindradhiraj University , Bangkok , Thailand.
authors.forename: P
authors.initials: P
authors.lastname: Vichinsartvichai
authors.forename: C
authors.initials: C
authors.lastname: Manolertthewan
authors.forename: P
authors.initials: P
authors.lastname: Promrungrueng
mesh_terms: D000328:Adult; D002878:Chromosomes, Human, Pair 1; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D008594:Menopause, Premature / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014178:Translocation, Genetic
keywords: PREMATURE OVARIAN FAILURE; PRIMARY OVARIAN INSUFFICIENCY; RECIPROCAL TRANSLOCATION; t(1;4)(p34.1;q34)