Turner综合征130例临床与细胞遗传学研究

Study on the clinics and cytogenetics of130cases verified with Turner syndrome

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。

To study the phenotype and cytogenetic characteristic of the children with Turner synˉdrome,genetic counselling and comprehensive analysis of the karyotype were used to confirm the diagnosis. 130cases of Turner syndrome have been identified with the age ranged from17days to38years old.Of them,3cases was less than12months accounting for2.3%,while55cases aged between1and12years old accounting for42.3%.In94.5%of the cases(103/109),the main presentation was short stature with the average height of139cm in adult cases.15cases(15/66)had mental retardation accounting for22.7%.18kinds of characteristic karyotype patterns and some rare cases had been identified,indicating that short stature was the main clinical presentation,but the puffy hands,feet and webbed neck were the major clinical features in infants and young children.The short stature was the chief complain in childhood,while amenˉorrhea and sexual under development were the chief complains in adulthood.That the cytogenetic analysis was the main diagnostic approach,but different characteristic patterns of the karyotype and the X chromoˉsome in the abnormalities of numerical and structural also have some relevance and guiding significance in clinics.