
This study identified clinically significant copy number variants (CNVs) in patients with 46, XY disorders of sex development (DSD) due to gonadal dysgenesis (GD) where no pathogenic variants were found via next-generation sequencing. Using Affymetrix Comparative Genomic Hybridization (CGH), CNVs were detected in 43% of cases, including a novel 19p13.3 duplication, and CNVs involving WT1 and SOX8. These findings highlight CGH’s role in identifying potential molecular causes for GD.
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