title: [Sperm sex chromosome analysis and preimplantation genetic diagnosis of patients with sex chromosome anomalies].
abstract: OBJECTIVE
  To investigate the constitution of abnormal spermatozoa from patients with sex chromosome anomalies.
  
  
  METHODS
  Triple color fluorescence in situ hybridization (FISH) was used to determine the sex chromosome constitution of spermatozoa from three patients with sex chromosome anomalies (case 1:46,XY/47,XXY, case 2:45,XO/46,X,Yqh-, case 3:47,XXY). The preimplantation genetic diagnosis (PGD) was performed to case 2.
  
  
  RESULTS
  An increased ratio (2.05 vs 1) of X-bearing to Y-bearing spermatozoa was only observed in case 2, who also had an increased incidence of total abnormal spermatozoa (29.71%). An increased incidence of total abnormal spermatozoa (4.91%) was also observed in case 3. Among the constitution of abnormal spermatozoa, case 2 had the increased proportions of XY18 disomy, O18 monosomy and XO monosomy, while case 3 had an increase proportion of XY18 disomy (1.87%). PGD was performed to case 2 and one embryo with XX1818 was selected for implanting.
  
  
  CONCLUSIONS
  Using FISH to detect the sperm sex chromosomes in patients with sex chromosome anomalies can provide the useful information to evaluate the risk of sex chromosome anomalies in preimplantation embryos.
authors.affiliation: Reproductive Research Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, P. R. China.
authors.forename: Yan-wen
authors.initials: YW
authors.lastname: Xu
authors.forename: Xiu-lian
authors.initials: XL
authors.lastname: Ren
authors.forename: Can-quan
authors.initials: CQ
authors.lastname: Zhou
authors.forename: Hui-ping
authors.initials: HP
authors.lastname: Li
authors.forename: Yin
authors.initials: Y
authors.lastname: Liu
authors.forename: Min-fang
authors.initials: MF
authors.lastname: Zhang
authors.forename: Guang-lun
authors.initials: GL
authors.lastname: Zhuang
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D019836:Preimplantation Diagnosis / Q000379:methods*; D012729:Sex Chromosome Aberrations; D013094:Spermatozoa / Q000378:metabolism*