摘要本文报道了发现性反转综合征患者1例。其染色体核型为46,XY(GTG),社会性别为女性。In this paper, reported a patient with sex- reversal syndrome, whose karyotype is 46,XY（GTG） and social sex is female.
4Okuhara K, Tajiama T, Nakas Jet al. A novel missense mutation in the HMG box region of the SRYgene in a Japanese patient with an XY sex reversal [J] . J Hum Genet, 2000, 45 (2) : 112.
