Journal
HUMAN REPRODUCTION
Volume 25, Issue 10, Pages 2637-2646Publisher
OXFORD UNIV PRESS
DOI: 10.1093/humrep/deq167
Keywords
XY gonadal dysgenesis; array CGH; diagnostic; candidate loci
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Funding
- German Ministry for Research and Education [01GM0625]
- European Community [201444]
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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. 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. 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). 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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