title: Cytogenetic analysis of 531 Chinese women with premature ovarian failure.
abstract: BACKGROUND
  This retrospective cohort study was to determine the frequency and types of chromosomal abnormalities in Han Chinese women with well-documented premature ovarian failure (POF).
  
  
  METHODS
  Karyotype analysis and correlation to phenotypes were performed on 531 Chinese patients with proven POF (FSH > 40 mIU/ml) attending four reproductive centers in China. G-banded metaphase chromosomes were prepared and analyzed, with mosaicism excluded by counting up to 100 cells from lymphocytes.
  
  
  RESULTS
  Chromosomal abnormalities were present in 64 of 531 (12.1%) POF cases, of which 32 were X-structural aberrations (7 mosaic): 15 del(Xq), 2 del(Xp), 11 isochromosomes [6 i(Xp); 5 i(Xq)], 1 ring chromosome (mosaic), 1 inversion (mosaic), 1 isodicentric chromosome and 1 complex arrangement. Nine non-mosaic X-autosome translocations were detected, all but 1 involving Xq. Aneuploidy without a structurally abnormal X was found in 19 cases: 7 non-mosaic 45,X, 9 45,X mosaicisms and 3 47,XXX (1 mosaic with 46,XX line). Karyotypic abnormalities were more frequent in patients with primary amenorrhea (15/70, 21.4%) than those with secondary amenorrhea (49/461, 10.6%; P = 0.01). 45,X and 45,X/46,XX mosaicism were the complements most frequently associated with primary amenorrhea (46.7%). Two of the three cases with 46,XY or 45,X/46,XY karyotype presented with 'secondary amenorrhea'. One balanced autosomal Robertsonian translocation was also detected.
  
  
  CONCLUSIONS
  The overall prevalence of chromosomal abnormalities was 12.1% in this first large scale report of chromosomal aberrations in Chinese women with POF. In one of the largest samples of women with POF reported from any population, the prevalence of X-structural abnormalities, X-autosome translocations and X aneuploidy confirms the essential role X chromosomal abnormalities play in POF.
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, 324 Jingwu Road, Jinan 250021, China.
authors.forename: Xue
authors.initials: X
authors.lastname: Jiao
authors.forename: Chunrong
authors.initials: C
authors.lastname: Qin
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.forename: Yingying
authors.initials: Y
authors.lastname: Qin
authors.forename: Xuan
authors.initials: X
authors.lastname: Gao
authors.forename: Bo
authors.initials: B
authors.lastname: Zhang
authors.forename: Xiumei
authors.initials: X
authors.lastname: Zhen
authors.forename: Yun
authors.initials: Y
authors.lastname: Feng
authors.forename: Joe Leigh
authors.initials: JL
authors.lastname: Simpson
authors.forename: Zi-jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D002681:China; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D041321:Chromosomes, Human, X / Q000235:genetics; D015331:Cohort Studies; D020732:Cytogenetic Analysis / Q000379:methods*; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008677:Metaphase; D010641:Phenotype; D015995:Prevalence; D016649:Primary Ovarian Insufficiency / Q000208:ethnology* / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D005640:Follicle Stimulating Hormone