De Novo 12;17 translocation upstream of sox9 resulting in 46,xx testicular disorder of sex development

Osama Refai, Andrew Friedman, Lori Terry, Tamison Jewett, Alexander Pearlman, Mary Ann Perle, Harry Ostrer

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


Individuals with rare cytogenetic variants have contributed to our understanding of the genetics of sex development and its disorders. Here, we report on a child with a de novo 12;17 translocation, 46,XX,t(12;17)(q14.3;q24. 3) chromosome complement, resulting in SRY-negative 46,XX testicular disorder of sex development (46,XX DSD without campomelic dysplasia). The chromosome 12 breakpoint was mapped via array comparative genomic hybridization (aCGH) of a hybrid somatic cell line to 64.2-64.6Mb (from the p arm telomere). The chromosome 17 breakpoint was mapped to 66.4-67.1 Mb, that is, upstream of SOX9. The location of the chromosome 17 breakpoint was refined by fluorescence in situ hybridization (FISH) at ≥776 kb upstream of SOX9. Thus, the 12;17 translocation removed part of the SOX9 cis-regulatory region and replaced it with a regulatory element from pseudogene LOC204010 or the next gene, Deynar, of chromosome 12, potentially causing upregulation of the testis-determining SOX9 gene during gonadal development and the phenotype of 46,XX testicular DSD.

Original languageEnglish (US)
Pages (from-to)422-426
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number2
StatePublished - Feb 2010
Externally publishedYes


  • 12:17 translocation
  • 46,xx testicular dsd
  • Arraycgh analysis
  • FISH
  • SOX9
  • Sex determination

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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