title: Isochromosome of Yp in a man with Sertoli-cell-only syndrome.
abstract: OBJECTIVE
  To address phenotype/genotype correlation in a man with i(Y)(p10).
  
  
  METHODS
  Case report.
  
  
  METHODS
  University-based reproductive genetics laboratory.
  
  
  METHODS
  A 27-year-old azoospermic man with i(Y)(p10), relatively normal stature, and testicular Sertoli-cell-only syndrome.
  
  
  METHODS
  Testicular biopsy, cytogenetic study, Y-chromosome deletion mapping analysis, fluorescence in situ hybridization (FISH).
  
  
  METHODS
  Expression of Y-chromosome genes.
  
  
  RESULTS
  We have identified one azoospermic man with i(Y)(p10) of 312 Taiwanese men presenting with a severe spermatogenic defect. Y-chromosome deletion mapping analysis confirmed deletions of all Yq sequences, including a putative growth controlling gene. Fluorescence in situ hybridization (FISH) analysis showed duplication of Yp material. The patient had normal stature considering midparental height. He also had no germ cells in the testicular tissue (Sertoli-cell-only syndrome) resulting from the loss of azoospermia factor in Yq.
  
  
  CONCLUSIONS
  Among structural rearrangements of the Y-chromosome, the isochromosome of Yp occurs very rarely. This case is the first reported case of an isochromosome Yp with a detailed description of testicular histology and body height.
authors.affiliation: Department of Obstetrics and Gynecology, National Cheng-Kung University Medical College, Tainan, Taiwan.
authors.forename: Ying Hui
authors.initials: YH
authors.lastname: Lin
authors.forename: Louise
authors.initials: L
authors.lastname: Chuang
authors.forename: Yung Ming
authors.initials: YM
authors.lastname: Lin
authors.forename: Ying Hung
authors.initials: YH
authors.lastname: Lin
authors.forename: Yeng Ni
authors.initials: YN
authors.lastname: Teng
authors.forename: Pao Lin
authors.initials: PL
authors.lastname: Kuo
mesh_terms: D000328:Adult; D001706:Biopsy; D041322:Chromosomes, Human, Y; D006801:Humans; D018404:Isochromosomes; D008297:Male; D009845:Oligospermia / Q000235:genetics* / Q000473:pathology*; D012708:Sertoli Cells; D013737:Testis / Q000473:pathology