Figure 2. Overlapping Chromosomal Rearrangements in DSD patients.

A. Delineation of a minimal human 9p sex reversal deletion. Schematic representation of the overlapping CMA detected 9p deletions in three unrelated 46,XY patients presenting with gonadal dysgenesis. A minimal common 260 Kb region was defined. Map showing the BAC clones covering the critical sex determination region and the normal flanking clones (RP11-459D20 and GS-43N6). A UCSC genome browser view (May 2006 Human Assembly) of the RefSeq genes encompassing the minimal 9p24.3 sex-reversing region was presented. B. Structural variation shared by unrelated patients presenting with distinct urogenital defects, may affect master regulator(s) of human genital development. A common genomic interval of 65 Kb in the cytoband 5p15.31 was deleted in patient 6 with genital ambiguity and duplicated in patient 5 with hypospadias. CMA detection of the 65 Kb duplication in patient 5 and a UCSC genome browser view (May 2006 Human Assembly) of the encompassed ADCY2 gene were presented.