Overlapping Chromosomal Rearrangements in DSD patients.

<p><b>A</b>. <b>Delineation of a minimal human 9p sex reversal deletion.</b> 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 (<i>May 2006</i> Human Assembly) of the <i>RefSeq</i> genes encompassing the minimal 9p24.3 sex-reversing region was presented. <b>B</b>. <b>Structural variation shared by unrelated patients presenting with distinct urogenital defects, may affect master regulator(s) of human genital development.</b> 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 (<i>May 2006</i> Human Assembly) of the encompassed <i>ADCY2</i> gene were presented.</p

Submicroscopic imbalances revealed by CMA screening of children affected with syndromic and non-syndromic disorders of sex development.

<p>Footnote: UCS: Uncertain Clinical Significance.</p

<i>De novo</i> CMA detected events are more enriched in GU patients than in individuals without urogenital abnormalities.

<p><i>Footnotes</i>: Two-tailed Fisher's exact test was used to evaluate the association of CMA detected <i>de novo</i> events with urogenital defects. *: GU cases (n = 90 out of the total of 116 analyzed GU children) and non GU controls (n = 8951) run only on CMA V.6.1 and CMA Oligo V6, since <i>de novo</i> events were specifically observed in GU patients screened with these two qualitatively comparable platforms (n = 10; see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0015392#pone-0015392-t006" target="_blank">Table 6</a>); <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0015392#pone.0015392-Ou1" target="_blank">[21]</a>. See Statistical Analysis in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0015392#s2" target="_blank">Methods</a> for details.</p