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目的从医学遗传学角度探讨性别发育异常的病因。方法采用外周血淋巴细胞培养技术及ＰＣＲ基因诊断技术，对２４１例性发育异常患者进行染色体检查及ＳＲＹ基因检测。结果发现染色体异常核型４５例，异常率１８．７％，其中常染色体异常７例，占异常总数的１５．６％，性染色体异常３０例，占６６．７％，性反转核型８例，占１７．８％。在性反转综合征中，ＳＲＹ基因与表型相符５例，不符３例。结论染色体异常、ＳＲＹ基因的改变是导致性别发育异常的重要原因之一，对该类患者进行细胞遗传学和分子遗传学检测，有助于病因诊断及；临床处理。
Objective To explore the etiology of gender dysplasia from the perspective of medical genetics. Methods Totally 241 chromosomal abnormalities and SRY gene were detected by peripheral blood lymphocyte culture and PCR gene diagnosis. The results showed that there were 45 karyotype abnormalities, the abnormal rate was 18.7%, including 7 cases of autosomal abnormalities, accounting for 15.6% of the total number of abnormalities, 30 cases of sex chromosome abnormalities, accounting for 66.7% Cases, accounting for 17.8%. In sexual inversion syndrome, SRY gene and phenotype consistent with 5 cases, does not match 3 cases. Conclusion Chromosomal abnormalities and SRY gene changes are one of the most important causes of gender dysplasia. Cytogenetics and molecular genetics tests of these genes are helpful for the diagnosis and treatment of etiology.