title: Non-chimerism and chimerism pseudo dicentric Y chromosome: two case reports about azoospermia and cytogenetic/molecular genetic analysis in the Chinese population.
abstract: OBJECTIVE
  To report the cytogenetic and molecular genetic analysis of the first two cases of non-chimerism and chimerism karyotype in Chinese male patients who suffer from azoospermia, which may be caused by pseudo dicentric Y chromosomes.
  
  
  METHODS
  Case study.
  
  
  METHODS
  Academic reproductive medicine center.
  
  
  METHODS
  Two male patients with azoospermia, carrying pseudo dicentric Y chromosome.
  
  
  METHODS
  Review the records of inquiry, testicular biopsy, pathological examination, semen routine examination, endocrine evaluation, cytogenetic chromosomal analysis, and FISH detection of peripheral blood to evaluate Y chromosome deletion.
  
  
  METHODS
  To investigate the possible association among pseudo dicentric Y, chimeric status and azoospermia.
  
  
  RESULTS
  Two patients were both diagnosed with azoospermia by a variety of andrology inspections. Further chromosomal analysis and FISH indicated their pseudo dicentric Y chromosome and different chimerism status. PCR confirmed simultaneous deletions of AZFb and AZFc regions in the Y chromosome of both patients.
  
  
  CONCLUSIONS
  Pseudodicentric Y chromosome affecting the long arm may lead to a male phenotype by duplicating the sex-determining region of Y chromosome (SRY) fragment and chimeric status may further impact patient's hormone levels, which obstruct spermatogenesis. However, the deletion of the azoospermia factor (AZF) is likely the key factor that causes azoospermia.
authors.affiliation: Center of Reproductive Medicine, Women and Children Health Care Hospital of Xiamen City, Xiamen City, Fujian Province, China. saarc2001@sina.com
authors.forename: Ping
authors.initials: P
authors.lastname: Li
authors.forename: Lu
authors.initials: L
authors.lastname: Ding
authors.forename: Yan-Wei
authors.initials: YW
authors.lastname: Sha
authors.forename: Yue-Qiang
authors.initials: YQ
authors.lastname: Song
authors.forename: Jin
authors.initials: J
authors.lastname: Lin
authors.forename: Erika F
authors.initials: EF
authors.lastname: Werner
authors.forename: Mingyu
authors.initials: M
authors.lastname: She
mesh_terms: D000328:Adult; D044466:Asian People; D053713:Azoospermia / Q000208:ethnology / Q000235:genetics*; D046528:Chimerism; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D020732:Cytogenetic Analysis; D056426:Genetic Loci; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male; D008297:Male; D029589:Seminal Plasma Proteins / Q000235:genetics; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics
chemical_list: D029589:Seminal Plasma Proteins