607例Turner综合征的临床表现及细胞遗传学分析

Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome

目的探讨Turner综合征的细胞遗传学特点与临床表现的关系。方法对细胞遗传学诊断为Turner综合征和临床具有Turner综合征主要表现之一的607例患者进行常规外周血染色体G显带核型分析，探讨不同核型与临床表现的关系。结果在607例Turner综合征异常核型中，共发现X单体型154例，占25．37％（154／607）；X染色体数目异常嵌合型240例，占39．54％（240／607），其中45，X低比例嵌合型（3≤45，X个数≤5，正常细胞≥30）194例，占X染色体数目异常嵌合型的80．83％（194／240）；X染色体结构异常型173例，占28．50％（173／607）；含标记染色体40例，占6．59％（40／607）。具有Turner综合征典型临床表现的患者主要为11岁以下患儿，主要核型为45，X；11～18岁患者除具有Turner综合征的典型临床表现外，主要的就诊原因为原发闭经，其核型主要为45，X、46，X，i（X）（q10）和mos45，X／46，X，i（x）（q10）；18岁以上患者主要就诊原因为原发不孕，其核型主要以45，X低比例嵌合型为主。607例患者中53例有孕产史，其中X染色体数目异常嵌合型48例，X染色体结构异常型5例。结论Turner综合征患者异常核型比例越高，临床症状越严重，临床发现越早。染色体核型分析可对Turner综合征患者，尤其是45，X低比例嵌合型的早期临床诊治提供一定的指导。

Objective To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. Methods 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional C-banding. Correlation between the karyotypes and clinical features were analyzed. Results Among the 607 cases, there were 154 cases with monosomy X （25. 37%）. Mosaicism monosomy X was found in 240 patients （39.54%）, which included 194 （80.83%） with a low proportion of 45,X （3 ≤ the number of 45, X 45, while the normal cells ≥ 30）. Structural X chromosome abnormalities were found in 173 patients （28.50%）. A supernumerary marker chromosome was found in 40 cases （6. 59%）. Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45, X, 46, X, i （X） （q10） and mos45,X/46, X, i（X）（q10）, which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Conclusion Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.