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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。
Objective To understand the common cytogenetic karyotypes and clinical effects of Turner’s syndrome. Methods Chromosome samples were prepared by routine peripheral blood lymphocyte culture. 1732 women with karyotype analysis by G - banding technique were retrospectively analyzed for their genetic test results, clinical effects and the age of diagnosis. Results The chromosomal karyotypes were diagnosed as Turner syndrome in 54 cases, male genitals in 7 cases, external genitalia in 47 cases of Turner syndrome in children with complex clinical manifestations, karyotypes, the main karyotype X monomer, embedded X-chromosome structure abnormalities common. The children aged 1 years old due to stunting and external genitalia treatment, adolescence due to short stature treatment more common, some children with varying degrees of mental retardation. Mental retardation or genital abnormalities. Conclusions X chromosome loss, chimerism or structural abnormalities are the main causes of Turner syndrome. Short stature and secondary sexual dysplasia are the main complaints. The chromosomes of karyotype are diverse and different karyotypes lead to different clinical effects. Clinical manifestations of the formation of the very reasons for the early diagnosis of the disease, the growth of children with such guidance is of great significance.