【摘要】 目的了解Turner综合征的常见细胞遗传学核型及临床效应。方法常规外周血淋巴细胞培养制备染色体标本,采用G显带技术进行核型分析1732例女性患儿,对其遗传学检测结果,临床效应及就诊年龄时段进行回顾性分析。结果检出染色体核型确诊为Turner综合征的为54例,外生殖器男性7例,外生殖器女性47例Turner综合征患儿临床表现复杂,染色体核型多样,主要核型以X单体,嵌合型X染色体结构异常多见。这些患儿1岁前主因发育迟缓和外生殖器异常就诊,青春期因身材矮小就诊多见,部分患儿有不同程度的精神运动发育迟缓。智力低下或外生殖器发育异常。结论 X染色体缺失,嵌合体或结构异常是导致Turner综合征的主要原因,身材矮小,第二性征发育不良为就诊主诉,染色体核型多样,不同核型个体导致不同临床效应,了解该病的临床表现极其形成原因,对及早的确诊该病,对该类患儿的成长指导具有重要意义。更多还原

【Abstract】 Objective:The aim of this study was to understand the chromosome karyotype and it′s clinical effect of Turner syndrome in children patients. Methods:Peripheral blood lymphocyte culture and chromosomes conventional G-band analysis were conducted in 1732 cases of female children,finally,retro analysis and statistical analysis were carried out. Results:The abnormal karyotype were found in 54 cases,of which 7 cases with male external genital organs and 47 cases with female external genital organs. The clinical features of Turner syndrome are complex and the karyotype are various,and 45,X,mosaicism and structure abnormal of X chromosome were most common. Most of the patients before the age of one visited doctor with growth retardation and external genital abnormalities,but adolescence patients visited doctor mainly due to short stature,part of the patients with different degrees of mental retardation or genital dysplasia. Conclusion:Turner syndrome was mainly caused by X monosomy,mosaicism or chromosomal structural aberrations. And most patients with Turner syndrome first visited doctor due to short stature or external genital abnormalities. Different type of karyotype caused different clinical effects,to understand the pathogenesis and diagnosed early can give effective treatment information for the better growth.更多还原