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目的分析30例特纳综合征(Turner综合征)的核型、临床表现及其关系。方法1991～2004年于汕头大学医学院第二临床学院诊治30例Turner综合征患者,行外周血淋巴细胞培养常规检查染色体,G显带、R显带技术分析核型。记录每例的核型及临床表现并进行分析。结果Turner综合征的核型可分为4类,即单一型、嵌合型、X染色体结构异常及含Y染色体核型;绝大多数为嵌合型。核型异常越明显,性发育不全等症状越典型。结论典型Turner综合征患者有身材矮小、闭经及性发育不全、特殊体型等表现,不同核型的临床表现取决于核型异常的程度及异常核型和正常核型细胞系的比例。含Y染色体者多有两性畸形,应早期行预防性性腺切除术。
Objective To analyze the karyotype, clinical manifestation and relationship of 30 Turner’s syndromes (Turner’s syndrome). Methods Thirty cases of Turner syndrome were diagnosed and treated in the Second Clinical College of Shantou University School of Medicine from 1991 to 2004. Chromosomes were detected by peripheral blood lymphocyte culture. G - banding and R - banding were used to analyze the karyotype. Karyotype and clinical manifestations of each case were recorded and analyzed. Results Turner syndrome karyotype can be divided into four categories, that is, single type, chimeric, X chromosome structural abnormalities and contains Y chromosome karyotype; the vast majority of chimeric. Karyotype abnormalities more obvious, hypoplastic hypoplasia and other symptoms more typical. Conclusion The typical Turner syndrome patients have short stature, amenorrhea and hypoplasia, special size and other manifestations, the clinical manifestations of different karyotypes depend on the degree of abnormal karyotypes and the proportion of abnormal karyotypes and normal karyotypic cell lines. Y chromosome contains more than the genital deformity, preventive gonadotomy should be carried out early.