title: An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16.
abstract: OBJECTIVE
  To report a case of a 46,XX male with an insertion of the sex-determining region Y (SRY) region in the terminal end of the long arm of chromosome 16.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Molecular and cytogenetic units in a university hospital.
  
  
  METHODS
  An infertile male, with normal masculinization of the external genitalia, who was referred for chromosomal analysis as an unaffected member of a family with idiopathic hypertrophic osteoarthropathy.
  
  
  METHODS
  Cytogenetic investigation, physical examination, and hormonal assays.
  
  
  METHODS
  Chromosomal analysis using GTG banding and fluorescence in situ hybridization (FISH).
  
  
  RESULTS
  Conventional chromosome analysis revealed a normal 46,XX karyotype. The FISH with bacterial artificial chromosomes (BACs) of the SRY region indicated the presence of this region on the terminal end of the long arm of chromosome 16.
  
  
  CONCLUSIONS
  This is the first case of a 46,XX male with the SRY gene present on an autosome-here chromosome 16. The size of the inserted region containing SRY, inserted in 16qter, is approximately 600 kb.
authors.affiliation: Center for Human Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 AL Leiden, The Netherlands. dauw@lumc.nl
authors.forename: Johannnes G
authors.initials: JG
authors.lastname: Dauwerse
authors.forename: Kerstin B M
authors.initials: KB
authors.lastname: Hansson
authors.forename: Ad A M
authors.initials: AA
authors.lastname: Brouwers
authors.forename: Dorien J M
authors.initials: DJ
authors.lastname: Peters
authors.forename: Martijn H
authors.initials: MH
authors.lastname: Breuning
mesh_terms: D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D020732:Cytogenetic Analysis; D004251:DNA Transposable Elements; D023961:Gonadal Dysgenesis, 46,XX / Q000150:complications / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000209:etiology; D008297:Male; D008875:Middle Aged; D051876:Sex-Determining Region Y Protein / Q000235:genetics*
chemical_list: D004251:DNA Transposable Elements; D051876:Sex-Determining Region Y Protein