Journal article
A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development
S White, J Hewitt, E Turbitt, Y Van Der Zwan, R Hersmus, S Drop, P Koopman, V Harley, M Cools, L Looijenga, A Sinclair
European Journal of Human Genetics | Published : 2012
Abstract
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling difficult and potentially hindering optimal treatment. Here, we describe the analysis of a 46,XY DSD patient that presented at birth with ambiguous genitalia. Histological analysis of the surgically removed gonads showed bilateral undifferentiated gonadal tissue and immature testis, both containing malignant germ cells. We screened genomic DNA from this patient for deletions and duplications using an Illumina whole-genome SNP microarray. This analy..
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Awarded by State Government of Victoria
Funding Acknowledgements
We thank the patient and family members for contributing to this research. This study was financially supported by the National Health and Medical Research Council of Australia (334314 to PK, VH and AS, 546478 and 491293 to SW) and the Victorian Government's Operational Infrastructure Support Program.