title: Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review.
abstract: OBJECTIVE
  To describe the molecular and cytogenetic characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male.
  
  
  METHODS
  Descriptive case study and literature review.
  
  
  METHODS
  Tertiary medical center.
  
  
  METHODS
  A 17-year-old 45,X mentally retarded male with no stigmata of Turner syndrome.
  
  
  METHODS
  Molecular and cytogenetic investigations, physical examination, and hormonal assays.
  
  
  METHODS
  Cytogenetic analysis, fluorescence in situ hybridization (FISH), array comparative genomic hybridization (CGH), and polymorphic DNA marker analysis.
  
  
  RESULTS
  The FISH showed a Y/18p translocation. Array CGH revealed a loss of distal chromosome 18p material and a loss of part of Yq material corresponding to deletions of chromosomal segments of 18pter-->18p11.2 and Yq11.221-->Yqter. Polymorphic DNA markers analysis showed that the X chromosome was of maternal origin and the deletion of 18p was of paternal origin.
  
  
  CONCLUSIONS
  This study confirms the usefulness of array CGH in the detection of subtle chromosomal rearrangements resulting in an unbalanced Y;autosome translocation.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.forename: Tzu-Hao
authors.initials: TH
authors.lastname: Wang
authors.forename: Schu-Rern
authors.initials: SR
authors.lastname: Chern
authors.forename: Wayseen
authors.initials: W
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D002869:Chromosome Aberrations; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D050174:Genetic Diseases, Y-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*