List of pathogenic (P) copy number variations detected by CMA in patients presenting with gonadal dysgenesis or a referring diagnosis of ambiguous genitalia.

<p>List of pathogenic (P) copy number variations detected by CMA in patients presenting with gonadal dysgenesis or a referring diagnosis of ambiguous genitalia.</p

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

Comprehensive map of non-polymorphic copy number changes detected by CMA in patients with disorders of sex development.

<p>On the right, CMA detected imbalances were shown for each clinical condition (asterisks). To gain insight into the genomic distribution of the identified imbalances, all published single gene mutations associated with cryptorchidism (blue), hypospadias (green) and ambiguous genitalia (red) were reviewed and indicated on the left side of the chromosomes. References are available upon request.</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

List of pathogenic (P) copy number variations in patients presenting with cryptorchidism.

<p>List of pathogenic (P) copy number variations in patients presenting with cryptorchidism.</p

List of pathogenic (P) copy number variations in patients presenting with hypospadias.

<p>List of pathogenic (P) copy number variations in patients presenting with hypospadias.</p

<i>De novo</i> clinically relevant copy number changes detected in patients presenting with disorders of sex development (DSD).

<p> <i>Footnotes:</i></p><p>Minimal size of the spontaneous aberrations (Mb) and the number of the encompassing HGNC (Hugo Gene Nomenclature Committee) genes (G) (NCBI Build v35.1) were indicated.</p><p><i>P</i> values were based on two-tailed Fisher's exact test comparing the frequency of each spontaneous event in cases versus controls. Significance threshold was set at <i>P</i> = 5.0×10⁻².</p><p>Abbreviations: Inh: Inheritance, <i>dn</i>: de novo.</p

List of copy number variations of unclear clinical significance (UCS) in 46,XY DSD patients.

<p>List of copy number variations of unclear clinical significance (UCS) in 46,XY DSD patients.</p