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