title: Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation.
abstract: OBJECTIVE
  To report two azoospermic patients with reciprocal X-autosome translocations.
  
  
  METHODS
  Cytogenetic analysis utilizing GTG-banding and Yq microdeletions shown by polymerase chain reaction (PCR) with 12 sequence-tagged site (STS) markers for Y chromosome microdeletions.
  
  
  RESULTS
  Cytogenetic analysis showed one man with 46,Y,t(X;19)(q22;q13.3) and the other with 46,Y,t(X;8)(p22;q11). Neither had any Yq microdeletions shown. The patient with 46,Y, t(X;8)(p22;q11) showed a slightly lower than normal testosterone level. By NCBI-Blast search, we found four testis-specific genes, t-complex-associated-testis-expressed 1-like (TCTE1L), Ferritin, heavy polypeptide-like 17 (FTHL17), Testis expressed sequence 13A (TEX13A), and Testis expressed sequence 13B (TEX13B) located near breakpoints on X chromosome. FTHL17, TEX13A, and TEX13B are spermatogonially-expressed, germ-cell-specific genes.
  
  
  CONCLUSIONS
  This is the first clinical report of azoospermia with reciprocal X-autosome translocations on Xp22 and q22. These translocations on Xp22 and q22 may be direct genetic risk factors for azoospermia.
authors.affiliation: Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University, Seoul, Republic of Korea. suman@cha.ac.kr
authors.forename: Suman
authors.initials: S
authors.lastname: Lee
authors.forename: Sook-Hwan
authors.initials: SH
authors.lastname: Lee
authors.forename: Tae-Gyu
authors.initials: TG
authors.lastname: Chung
authors.forename: Hyun-Joo
authors.initials: HJ
authors.lastname: Kim
authors.forename: Tae-Ki
authors.initials: TK
authors.lastname: Yoon
authors.forename: In-Pyung
authors.initials: IP
authors.lastname: Kwak
authors.forename: Sang-Hee
authors.initials: SH
authors.lastname: Park
authors.forename: Won-Tae
authors.initials: WT
authors.lastname: Cha
authors.forename: Sung-Won
authors.initials: SW
authors.lastname: Cho
authors.forename: Kwang-Yul
authors.initials: KY
authors.lastname: Cha
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D020732:Cytogenetic Analysis; D006801:Humans; D007621:Karyotyping; D008297:Male; D009845:Oligospermia / Q000097:blood / Q000235:genetics*; D014178:Translocation, Genetic