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. 2011 Nov 9;20(3):348–351. doi: 10.1038/ejhg.2011.204

Figure 2.

Figure 2

Molecular analysis of DNA from the 46,XY DSD patient. (A). The deletion identified by microarray analysis, removing 767 kb of genomic DNA on chromosome 16. Data are plotted along the chromosome, with each point representing the copy number estimate of an individual probe. The breakpoints of the deletion are shown by the broken vertical lines. (B) PCR analysis of the deletion. cDNA was derived from lymphocytes of the index patient, and primers were designed to amplify a PCR product across the predicted breakpoint. Sequence analysis shows that exon 5 is spliced directly onto exon 9. (C) Effect of the deletion on the WWOX protein. The full-length WWOX protein has two WW domains at the N-terminal, and a SDR domain at the C-terminal. A deletion of exons 6–8 is predicted to result in an in-frame but shortened product, with the SDR domain largely missing.