Document Detail

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.
MedLine Citation:
PMID:  20685758     Owner:  NLM     Status:  MEDLINE    
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.
S Ledig; O Hiort; G Scherer; M Hoffmann; G Wolff; S Morlot; A Kuechler; P Wieacker
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Publication Detail:
Type:  Evaluation Studies; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-08-04
Journal Detail:
Title:  Human reproduction (Oxford, England)     Volume:  25     ISSN:  1460-2350     ISO Abbreviation:  Hum. Reprod.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-16     Completed Date:  2011-01-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8701199     Medline TA:  Hum Reprod     Country:  England    
Other Details:
Languages:  eng     Pagination:  2637-46     Citation Subset:  IM    
Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Vesaliusweg 12-14, 48149 Münster, Germany.
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MeSH Terms
Aged, 80 and over
Cohort Studies
DAX-1 Orphan Nuclear Receptor / genetics
Genes, Duplicate
Genetic Loci*
Gonadal Dysgenesis, 46,XY / diagnosis*,  genetics*
Middle Aged
Oligonucleotide Array Sequence Analysis / methods*
SOX9 Transcription Factor / genetics
Sequence Deletion
Transcription Factors / genetics
Young Adult
Reg. No./Substance:
0/DAX-1 Orphan Nuclear Receptor; 0/DMRT1 protein; 0/NR0B1 protein, human; 0/SOX9 Transcription Factor; 0/SOX9 protein, human; 0/Transcription Factors

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