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为分析和探讨Turner综合征的临床以及细胞遗传学特征,通过遗传咨询和染色体核型综合分析进行疾病诊断 ,确诊了Turner综合征130例 ,年龄17d～38岁 ,其中<1岁3例 ,占2.3%,1～12岁55例 ,占42.3%。身材矮小103/109例 ,占94.5% ,成人身高平均为139cm。智能低下15/66例 ,占22.7 %。发现和证实18种染色体核型以及部分少见特殊病例。提示Turner综合征以身材矮小为主要临床表现 ,婴幼儿以手足背水肿、蹼颈为特征 ,儿童期以矮小为就诊原因 ,成人以闭经、第二性征不发育为主诉 ,细胞遗传学分析为确诊的主要手段。各种类型的染色体核型 ,具有特征性的X染色体数目异常或结构异常 ,与临床有一定的相关性和指导意义。
In order to analyze and discuss the clinical and cytogenetic characteristics of Turner’s syndrome, 130 cases of Turner’s syndrome were diagnosed by genetic counseling and chromosomal karyotyping. The age ranged from 17 to 38 years, of which 3 were <1 year old, accounting for 2.3%, 1 to 12 years old in 55 cases, accounting for 42.3%. 103/109 short stature, accounting for 94.5%, the average adult height of 139cm. 15/66 cases of low intelligence, accounting for 22.7%. Identify and validate 18 karyotypes and some rare special cases. Tip Turner syndrome with short stature as the main clinical manifestations, infants and young children with dorsal and hand dorsal edema, webbed neck characterized by short dwarf childhood visits for medical reasons, adults with amenorrhea, secondary sexual characteristics of undeveloped as the main complaint, cytogenetic analysis of The main means of diagnosis. Various types of chromosome karyotype, with a characteristic number of X chromosome abnormalities or structural abnormalities, and clinical have some relevance and guiding significance.