A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.
A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3' breakpoint region magnified.
Molecular Development, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
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http://orcid.org/0000-0001-9225-8911
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Ohnesorg
Molecular Development, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
J A
JA
van den Bergen
Department of Genomics, Agilent Technologies Inc., Mulgrave, Victoria, Australia.
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D
Belluoccio
Endocrinology & Metabolism Centre, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.|ANZAC Research Institute, University of Sydney, Sydney, New South Wales, Australia.
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N
Shankara-Narayana
Endocrinology & Metabolism Centre, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
A-M
AM
Kean
Endocrinology & Metabolism Centre, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.
A
A
Vasilaras
Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.|Central Clinical School, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
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L
Ewans
Molecular Development, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
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KL
Ayers
Molecular Development, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.|Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
A H
http://orcid.org/0000-0003-2741-7992
AH
Sinclair
D000293:Adolescent; D015415:Biomarkers; D020440:Gene Duplication; D056726:Genetic Association Studies; D006801:Humans; D059785:Karyotype; D008297:Male; D009928:Organ Specificity / Q000235:genetics; D010641:Phenotype; D012045:Regulatory Sequences, Nucleic Acid; D055758:SOX9 Transcription Factor / Q000235:genetics*; D046468:Sexual Development / Q000235:genetics*; D013733:Testicular Diseases / Q000175:diagnosis* / Q000235:genetics*
D015415:Biomarkers; D055758:SOX9 Transcription Factor

SOX9
; disorders of sex development; enhancer; gonads; testis; transcriptional regulation