Comparison of detection rates of chromosome G-banding karyotype analysis and fluorescencein situ hybridization among children with sex chromosome mosaicisms
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目的 探讨G显带核型分析与荧光原位杂交(FISH)技术在性染色体嵌合儿童检测结果中的符合率。 方法 选取2020年4月至2021年5月于深圳市儿童医院就诊、进行间期性染色体FISH且可追溯到G显带核型结果的可疑性染色体异常患儿157例为研究对象，比较两种方法在性染色体嵌合儿童中的诊断符合率。 结果 G显带核型分析与FISH的异常检出率分别为26.1%(41/157)与22.9%(36/157)(P>0.05)。G显带核型分析结果中，性染色体纯合组141例(89.8%)，其中仅5例(3.5%)与FISH不符；性染色体嵌合组16例(10.2%)，其中11例(68.8%)与FISH不符。两组间两种检测方法结果符合率差异存在统计学差意义(P<0.05)。 结论 G显带核型分析和FISH的染色体异常检出率差异无统计学意义，但二者在性染色体嵌合组中符合率远低于纯合组，差异具有统计学意义，临床应考虑结合这两种方法对患者进行综合诊断。 Objective To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for the diagnosis of children with sex chromosome mosaicisms. Methods A retrospective analysis was carried out for 157 children with suspected sex chromosome abnormalities who had presented at Shenzhen Children′s Hospital from April 2021 to May 2022. Interphase sex chromosome FISH and G-banding karyotyping results were collected. The coincidence rate of the two methods in children with sex chromosome mosaicisms was compared. Results The detection rates of G-banding karyotype analysis and FISH were 26.1% (41/157) and 22.9% (36/157) , respectively (P>0.05). The results of G-banding karyotype analysis showed that 141 cases (89.8%) were in the sex chromosome homogeneity group, of which only 5 cases (3.5%) were inconsistent with the results of FISH. There were 16 cases (10.2%) in the sex chromosome mosaicism group, of which 11 cases (68.8%) were inconsistent with the results of FISH. There was a statistical difference between the two groups in the coincidence rate of the results of the two methods (P<0.05). Conclusion No significant difference was found between G-banding karyotype analysis and FISH in the detection rate of chromosome abnormalities. The coincidence rate in the mosaicism group was lower than that in the homogeneity group, and the difference was statistically significant. The two methods should be combined for clinical diagnosis.
Objective To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for the diagnosis of children with sex chromosome mosaicisms. Methods A retrospective analysis was carried out for 157 children with suspected sex chromosome abnormalities who had presented at Shenzhen Children′s Hospital from April 2021 to May 2022. Interphase sex chromosome FISH and G-banding karyotyping results were collected. The coincidence rate of the two methods in children with sex chromosome mosaicisms was compared. Results The detection rates of G-banding karyotype analysis and FISH were 26.1% (41/157) and 22.9% (36/157) , respectively (P>0.05). The results of G-banding karyotype analysis showed that 141 cases (89.8%) were in the sex chromosome homogeneity group, of which only 5 cases (3.5%) were inconsistent with the results of FISH. There were 16 cases (10.2%) in the sex chromosome mosaicism group, of which 11 cases (68.8%) were inconsistent with the results of FISH. There was a statistical difference between the two groups in the coincidence rate of the results of the two methods (P<0.05). Conclusion No significant difference was found between G-banding karyotype analysis and FISH in the detection rate of chromosome abnormalities. The coincidence rate in the mosaicism group was lower than that in the homogeneity group, and the difference was statistically significant. The two methods should be combined for clinical diagnosis.
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