SOX3 and disorder of sexual differentiation: In four patients, there was a duplication of 206 kb corresponding to a region more than 500 kb upstream of SOX3 transcription start site [112], and in another case, a 774-kb autosomal (chromosome 1) translocation into a palindromic sequence 82 kb distal to SOX3 was associated with ovotesticular DSD characterised by the presence of a testis on one side and an ovary contralaterally [113].