title: An infertile male with apparent 45,X turned out to have 45,X,der(Y)t(Y;13)(q11.2;q12),-13: clinicopathologic and cytogenomic studies.
abstract: OBJECTIVE
  To conduct clinicopathologic and cytogenomic diagnostics of an infertile male with a karyotype of 45,X.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Research laboratory at a university hospital.
  
  
  METHODS
  A male with a karyotype of 45,X was diagnosed because of infertility, and his parents also were examined.
  
  
  METHODS
  None.
  
  
  METHODS
  Cytogenomics studies were performed by multiple polymerase chain reaction and fluorescent in situ hybridization.
  
  
  RESULTS
  Testicular pathology results showed Sertoli cell-only syndrome, and the SC nodule tissue was diagnosed as angiolipomata. Thus, the patient's karyotype was reinterpreted to be 45,X,der(Y)t(Y;13)(q11.2;q12),-13.ish der(Y)(SRY+, DYZ3+, wcp13+). Analysis of DNA polymorphism showed that the chromosome X was of maternal origin.
  
  
  CONCLUSIONS
  This is the first case reported with a 45,X,der(Y)t(Y;13)(q11.1;q12),-13, which will be useful for the infertility phenotype-molecular karyotype correlation.
authors.affiliation: Department of Reproduction and Genetics, Jinling Hospital, Clinical School of Nanjing University, Nanjing, People's Republic of China. cuiyx55@yahoo.com.cn
authors.forename: Ying-Xia
authors.initials: YX
authors.lastname: Cui
authors.forename: Xin-Yi
authors.initials: XY
authors.lastname: Xia
authors.forename: Lian-Jun
authors.initials: LJ
authors.lastname: Pan
authors.forename: Yun-Hua
authors.initials: YH
authors.lastname: Wang
authors.forename: Bing
authors.initials: B
authors.lastname: Yao
authors.forename: Yu-Feng
authors.initials: YF
authors.lastname: Huang
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D041322:Chromosomes, Human, Y; D020732:Cytogenetic Analysis; D003937:Diagnosis, Differential; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000175:diagnosis*