62例特纳综合征患者染色体核型分析

Chromosome karyotype analysis of 62 patients with Turner syndrome

  • 摘要: 目的 分析特纳综合征(Turner Syndrome)不同核型的细胞遗传学特征、分布情况及复杂核型的异常来源。 方法 对2010-2015年就诊于解放军总医院妇产科门诊或儿科门诊的62例Turner综合征患者进行外周血淋巴细胞培养及染色体核型分析,部分患者结合荧光原位杂交检测或染色体基因芯片分析。 结果 62例Turner综合征患者表现为女性,年龄5~25岁,共检出12种核型,其中1例含复杂标记染色体嵌合核型,经荧光原位杂交检测证实标记染色体为Y染色体部分缺失或Y染色体假双着丝粒;1例环染色体嵌合核型,经基因芯片分析证实环染色体来源于Xp11q28。 结论 Turner综合征核型复杂多样,其中以XO及i (Xq)较为常见,在常规G显带的基础上,应用荧光原位杂交技术或基因芯片技术可准确识别疑难异常染色体,对明确诊断及后续治疗有指导意义。

     

    Abstract: Objective To analyze the cytogenetic features and distribution of Turner syndrome and the origins of complex karyotype. Methods Peripheral blood lymphocyte culture and karyotyping were performed in 62 patients with Turner syndrome in obstetric and gynecologic department or prediatrics department in Chinese PLA General Hospital from 2010 to 2015, and fluorescence in situ hybridization and chromosomal microarray analysis (CMA) were carried out in some cases. Results Twelve different types of karyotype were detected in 62 patients with Turner syndrome (age ranging from 5-25 years), including a case with complex marker chromosome mosaicism, which was confirmed by fluorescence in situ hybridization detection as part absence of Y chromosome or pseudodicentric Y chromosome; a case of ring chromosome mosaicism, which originated from Xp11q28 confirmed by CMA Conclusion Turner syndrome karyotypes are complex and diverse with XO and i (Xq) as most common. On the base of conventional G-banding karyotype, fluorescence in situ hybridization and gene chip technology can be used to identify complex chromosomal abnormalities, which has significant impact on the diagnosis and subsequent treatment of this disease.

     

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