title: Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation.
abstract: OBJECTIVE
  To describe the clinical findings of a patient with a de novo unbalanced X;autosome translocation.
  
  
  METHODS
  Descriptive case study.
  
  
  METHODS
  Mackay Memorial Hospital, National Yang-Ming University, China Medical University, China Medical University Hospital, and Chung Shan Medical University.
  
  
  METHODS
  A 33-year-old woman with primary ovarian failure, moderate mental retardation, and mild phenotype of facial dysmorphism.
  
  
  METHODS
  None.
  
  
  METHODS
  Ultrasound, cytogenetic analysis, and laboratory studies of hormones.
  
  
  RESULTS
  Laboratory studies revealed the following values: FSH level 72.48 mIU/mL (normal women: <40 mIU/mL), LH level 32.87 mIU/mL (normal women: <21 mIU/mL), and E(2) level <20 pg/mL (normal women up to 375 pg/mL), confirming primary ovarian failure. The PRL level was normal. Spectral karyotyping and G-banding cytogenetic analysis revealed a derivative X chromosome containing additional chromosomal material derived from the distal long arm of chromosome 5. The derived chromosome X had break points at Xq27.3 and 5q32, resulting in monosomy Xq (Xq27.3-->qter) and partial trisomy 5q (5q32-->qter). The patient's karyotype was 46,X,der(X)t(X;5)(q27.3;q32). The parental karyotypes were normal.
  
  
  CONCLUSIONS
  This is the first report of partial monosomy Xq (Xq27.3-->qter) and partial trisomy 5q (5q32-->qter). The present case provides evidence for the occurrence of primary ovarian failure and mental retardation in females with unbalanced X;autosome translocations.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Chyi-Chyang
authors.initials: CC
authors.lastname: Lin
authors.forename: Yueh-Chun
authors.initials: YC
authors.lastname: Li
authors.forename: Lie-Jiau
authors.initials: LJ
authors.lastname: Hsieh
authors.forename: Chen-Chi
authors.initials: CC
authors.lastname: Lee
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*