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

Footnotes: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 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 P = 5.0×10−2.Abbreviations: Inh: Inheritance, dn: de novo.