【论著】128例异常染色体核型的细胞遗传学分析

  09-06-15  

摘要目的分析染色体异常与临床表现之间的关系。方法对3 516例就诊者进行外周血淋巴细胞染色体G显带（必要时C显带）核型分析。结果检出异常核型128例（3.64%），包括染色体数目异常35例（1.00%）、结构异常93例（2.65%），其中平衡易位22例、罗伯逊易位14例、倒位38例、染色体部分重复缺失5例、标记染色体4例。结论染色体异常是不孕不育、不良孕产史的重要病因。
关键词染色体异常不孕不育不良孕产史
Cytogenectical Analysis of 128 Cases abnormal karyotype
ZHANG AipingZHANG XuehongLIU LijunWANG RuiyanLiu Kun
ABSTRACTObjectiveTo investigate the relationship between chromosomal abnormalities and clinical character. MethodsThe peripheral blood lymphocytic culture were performed according to standard methods in 3 516 patients. Karyotype was analised after G or C band preparation. ResultsAltogether 128（3.64%）cases with abnormal karyotype  were found in 3 516 patients. There were 35(1.00%) cases numerical abnormal and 93(2.65%) cases structural abnormal. Among them 22 cases were the balanced translocation, 14 cases were the Robertsonian translocation, 38cases were pericentric inversion, and 5 cases chromosome deletion and 4 cases were marker chromosome. ConclusionThe chromosomal abnormalities may play an important role in sterility and negative reproductive. It is necessary to take the examination of chromosome karyotye analysis in these patients.
KEY WORDSChromosomal abnormitySterilityNegative reproductive history

作者单位兰州大学第一医院生殖中心