Histological examination of the new cases reported.

<p>Case C61: Histologic section of the right (A) and left (B) gonad showing seminiferous tubules with diffuse atrophy of the seminal line. Case C64: Right Ovotestis (C): The gonads were surrounded by ovarian bursa and shown some follicular structures and corpora lutea (white arrow). In the medulla hypoplastic seminiferous tubules were present (black arrow). Case C65 (D): Dog ovotestis. In the gonad, follicular structures including oocytes (arrow) coexist with testicular tubuli lined by Setoli cells (asterisc) (Courtesy of Valeria Grieco, University of Milan).</p

Q-RT PCR results.

<p>Histograms represent the copy numbers ratio of a non-polymorphic probe within Sox9 gene in the two duplicated dogs (dog10 and dog44, red bars) relative to five normal control dogs (blue bars). The data have been normalized against two different reference sequences (Abs17, Bglr2).</p

List of CNVs identified with array-CGH in the seven cases with the indication of their code, type, location and size (CanFam2 assembly).

<p>CNVs were checked for occurrence in the Database of Genomic Copy Number Variants in the dog genome (<a href="http://dogs.genouest.org/LUPA.dir/CNV.html" target="_blank">http://dogs.genouest.org/LUPA.dir/CNV.html</a>) and in several papers <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0101244#pone.0101244-Chen1" target="_blank">[29]</a>–<a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0101244#pone.0101244-Berglund1" target="_blank">[33]</a>.</p

Graphical representation of the SOX9 locus duplications discovered.

<p>The figure shows a 1,6(canFam2 assembly) and magnified views of the two SOX9 duplications detected, by array-CGH, in cases C10 (left) and C44 (right), respectively. The shaded areas indicate a gain in DNA copy number (duplication, average log2 ratios: +0, 5) detected by red dots. Asterisks indicate the 168 bp repeats.</p