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性反转综合征包括46XX男性及46XY女性,病人的染色体核型与其表型相反。作者在遗传咨询门诊中,发现1例46XX男性病人,对尿道分泌物进行细胞学辨认及荧光原位杂交(FISH),证实分泌物中存有精子细胞,从而推论该病人为46XX隐睾性反转综合征者,现报告如下。临床资料病人,社会
Sex reversal syndrome, including 46XX male and 46XY female, the patient’s chromosome karyotype and its phenotype opposite. The author found in a genetic counseling clinic 46XX male patients, urethral secretions cytology and fluorescence in situ hybridization (FISH), confirmed the secretions of sperm cells, which concluded that the patient is 46XX cryptorchidism Turn syndrome, the report is as follows. Clinical data of patients, society