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目的对常规染色体核型分析中无法确定核型的检材或者表型与核型不符的检材结合分子生物学方法进行检测。方法常规核型分析严格参照实验室流程进行,MLPA(荧光探针杂交技术)实验步骤严格按照说明书进行。结果在1例核型为46,X,i(Y)(q10)/46,X,+mar个体中检出部分Y染色体的序列,在1例核型异常的嵌合体个体中验证了其核型为46,X,i(Y)(q10)/46,X,i(Y)(p10)。结论常规核型分析与MLPA的结合,可以精确分析部分染色体分型异常样本的核型情况,若常规核型分析无法确认核型时,可考虑采用分子生物学手段进行进一步检测
OBJECTIVE: To detect the unidentified karyotypes or the unmatched phenotypes and karyotypes in routine karyotype analysis with molecular biology method. Methods Conventional karyotyping was performed strictly according to the laboratory procedures. MLPA (fluorescent probe hybridization) protocol was performed in strict accordance with the instructions. Results The sequence of some Y chromosomes was detected in one case of karyotype 46, X, i (Y) (q10) / 46, X, + mar. The type is 46, X, i (Y) (q10) / 46, X, i (Y) (p10). Conclusion The combination of routine karyotype analysis and MLPA can accurately analyze the karyotypes of some chromosomal abnormalities. If the karyotypes can not be confirmed by conventional karyotyping, molecular biology can be considered for further testing