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Updated: Mar 29, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis
Gabby Atlas1,2,3, Katrina M Bell4,5, Gorjana Robevska4
1Murdoch Children's Research Institute, Melbourne, Victoria, Australia, gabby.atlas@mcri.edu.au.
Introduction:
Diagnostic copy number variants (CNVs) have been detected in up to 30% of individuals with DSD. Tools have been developed to detect CNVs from exome/genome sequencing.
Methods:
Sequencing data from a cohort of individuals with DSD were re-analysed through a CNV-caller (Ximmer) after no diagnostic single nucleotide variants were identified through traditional sequencing analysis.
Results:
A deletion was identified for an individual with gonadal dysgenesis that encompassed all exons of the gene WT1.
Conclusion:
This case reinforces the role of CNV analysis as part of genomic analysis, which holds exciting potential for improving diagnostic rates in the future.
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