title: Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.
abstract: BACKGROUND
  XY gonadal dysgenesis (XY-GD) is a heterogeneous disorder characterized by failure of testicular development despite a normal male karyotype. Non-syndromic and syndromic forms can be delineated. Currently, only a minority of cases can be explained by gene mutations.
  
  
  METHODS
  The aim of this study was to detect microdeletions and duplications by using high-resolution Agilent oligonucleotide arrays in a cohort of 87 patients with syndromic or non-syndromic 46,XY-GD.
  
  
  RESULTS
  In 26 patients, we identified gains or losses in regions including genes involved in XY-GD (DMRT1, SOX9, DAX1) or in regions, which have not been described as polymorphic copy number variants (CNVs).
  
  
  CONCLUSIONS
  This study shows that array comparative genomic hybridization (CGH) analysis is a useful tool for the molecular diagnosis of XY-GD as well as for the identification of potential candidate genes involved in male sexual development.
authors.affiliation: Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Vesaliusweg 12-14, 48149 Münster, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Ledig
authors.forename: O
authors.initials: O
authors.lastname: Hiort
authors.forename: G
authors.initials: G
authors.lastname: Scherer
authors.forename: M
authors.initials: M
authors.lastname: Hoffmann
authors.forename: G
authors.initials: G
authors.lastname: Wolff
authors.forename: S
authors.initials: S
authors.lastname: Morlot
authors.forename: A
authors.initials: A
authors.lastname: Kuechler
authors.forename: P
authors.initials: P
authors.lastname: Wieacker
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D015331:Cohort Studies; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics; D005260:Female; D020131:Genes, Duplicate; D056426:Genetic Loci; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D055758:SOX9 Transcription Factor / Q000235:genetics; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics; D055815:Young Adult
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; C110547:DMRT1 protein; C539965:NR0B1 protein, human; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; D014157:Transcription Factors