特纳综合征的染色体核型及临床分析

Clinical and chromosomal karyotype analysis in Turner syndrome

目的：分析特纳（Turner）综合征的染色体核型、临床表现及其关系。方法：1991～2006年于汕头大学医学院第二附属医院诊治的35例Turner综合征患者，进行外周血淋巴细胞培养常规染色体检查，G显带、R显带技术分析核型，记录每例的核型、临床表现并进行分析。结果：Turner综合征的染色体核型可分为4类，即单一型、嵌合型、X染色体结构异常和含Y染色体核型。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、性发育不全及特殊体型等表现，不同核型的临床表现取决于核型异常的程度及异常核型与正常核型细胞系的比例。含Y染色体的多有两性畸形，应早期施行预防性性腺切除术。

Objective： To analyze the chromosomal karyotype, the clinical situation and their relationship in 35 patients with Turner syndrome （TS）. Methods： Thirty five patients with Tarner＇s syndrore treated in the seconde Affiliated hospital of Medical college of Shantou University from 1991 to 2006 were studied. Lymphocytes of peripheral blood were cultured, then karyotype was typed by G banding and R banding technique. The clinical situation, karyotype and their relationship were analyzed. Results： The karyotype of TS could be divided into 4 groups： unity type, mosaicism, aberration of X chromosome and contained Y chromosomal karyotype. The more abnormal of X chromosomal karyotype, the more typical apppearances of sexual nondevelopment. Conclusion. Typical TS patients have some clinical features, such as microsomia, menoschesis, sexual nondevelopment and special somatotype. Clinical features are decided by degree of abnormal karyotype and proportion of abnormal karyotype and normal karyotype, and hermaphrodism is common among TS patients contained Y chromosome, Prophylactic gonadectomy should be done earlier.