Clin Lab. 2022 Apr 1;68(4). doi: 10.7754/Clin.Lab.2021.210747.
Most laboratories adopt the results of metaphase fluorescent in situ hybridization (FISH) for the diagnosis of microdeletion syndromes. To investigate the discrepancy between the results of interphase and metaphase, we compared the quantitative results of FISH for 5 kinds of microdeletion syndrome and gender determination disorders (SDD).
A total of 282 (135 for DiGeorge syndrome, 20 for Kalmann syndrome, 7 for Miller-Dieker syndrome, 38 for Prader Willi/Angelman syndrome, 62 for Williams syndrome, and 20 for SDD (SRY FISH)) were enrolled. For SRY FISH, we artificially mixed fresh blood of male and female with various ratios and then compared the results of metaphase and interphase SRY FISH. Using a bio-cell chip, we performed interphase FISH in 168 patients with microdeletion syndromes and compared the results with manual interphase.
The concordance rate between the results of metaphase and interphase was 100% in microdeletion syndrome. In the disorders of gender development, SRY FISH showed 100% concordance between interphase and metaphase when we counted 50 metaphase cells and 100 interphase cells. Comparison with mixtures of male and female blood at various ratios also showed 100% concordance. The results of bio-cell chip showed 100% concordance between previous interphase FISH results.
Considering the complete concordance between interphase and metaphase in microdeletion syndrome, the application of interphase FISH without performing metaphase FISH can be a screening test for microdeletion syndrome. Confirmation by metaphase FISH can be performed only in cases with abnormal results by interphase FISH.
大多数实验室采用中期荧光原位杂交（FISH）结果来诊断微缺失综合征。为了研究中期和间期结果之间的差异，我们比较了 5 种微缺失综合征和性别发育障碍（SDD）的 FISH 定量结果。
共纳入 282 例患者（135 例 DiGeorge 综合征、20 例 Kallmann 综合征、7 例 Miller-Dieker 综合征、38 例 Prader Willi/Angelman 综合征、62 例 Williams 综合征和 20 例 SDD（SRY FISH））。对于 SRY FISH，我们人工混合了不同比例的新鲜男女性血液，然后比较了中期和间期 SRY FISH 的结果。我们使用生物细胞芯片在 168 例微缺失综合征患者中进行了间期 FISH，并将结果与手动间期 FISH 进行了比较。
微缺失综合征中，中期和间期结果的符合率为 100%。在性别发育障碍中，当我们计数 50 个中期细胞和 100 个间期细胞时，间期和中期的 SRY FISH 结果完全一致。与不同比例的男女混合血液的比较也显示出 100%的一致性。生物细胞芯片的结果与之前的间期 FISH 结果完全一致。
考虑到微缺失综合征中中期和间期结果完全一致，不进行中期 FISH 而应用间期 FISH 可以作为微缺失综合征的筛查试验。仅在间期 FISH 结果异常的情况下才需要进行中期 FISH 进行确认。
