染色体微阵列分析技术在2600例流产物中的应用
彭继苹,袁海明

Application of chromosomal microarray analysis for a cohort of 2600 Chinese patients with miscarriage
Peng Jiping,Yuan Haiming
表2 不同芯片检出的染色体数目异常具体情况
Table 2 Numerical chromosomal abnormalities detected by different chips
染色体数目异常 染色体 3种芯片共
检出例数(%)
CytoScan optima
芯片检出例数(%)
CytoScan 750K
芯片检出例数(%)
CytoScan HD
芯片检出例数(%)
单条染色体三体 Chr.2 9 (0.93) 7 (1.38) 1 (0.26) 1 (1.37)
Chr.3 12 (1.24) 7 (1.38) 4 (1.03) 1 (1.37)
Chr.4 9 (0.93) 6 (1.19) 2 (0.52) 1 (1.37)
Chr.5 3 (0.31) 2 (0.40) 0 (0.00) 1 (1.37)
Chr.6 5 (0.52) 1 (0.20) 3 (0.77) 1 (1.37)
Chr.7 13 (1.34) 5 (0.99) 7 (1.80) 1 (1.37)
Chr.8 20 (2.07) 11 (2.17) 9 (2.32) 0 (0.00)
Chr.9 13 (1.34) 4 (0.79) 8 (2.06) 1 (1.37)
Chr.10 14 (1.45) 10 (1.98) 4 (1.03) 0 (0.00)
Chr.11 7 (0.72) 4 (0.79) 2 (0.52) 1 (1.37)
Chr.12 7 (0.72) 2 (0.40) 5 (1.29) 0 (0.00)
Chr.13 31 (3.21) 16 (3.16) 11 (2.84) 4 (5.48)
Chr.14 21 (2.17) 9 (1.78) 10 (2.58) 2 (2.74)
Chr.15 46 (4.76) 23 (4.55) 18 (4.64) 5 (6.85)
Chr.16 155 (16.03) 78 (15.24) 63 (16.24) 14 (19.18)
Chr.17 6 (0.62) 4 (0.79) 2 (0.52) 0 (0.00)
Chr.18 26 (2.69) 12 (2.37) 11 (2.84) 3 (4.11)
Chr.19 3 (0.31) 1 (0.20) 2 (0.52) 0 (0.00)
Chr.20 12 (1.24) 10 (1.98) 1 (0.26) 1 (1.37)
Chr.21 52 (5.38) 29 (5.73) 19 (4.90) 4 (1.37)
Chr.22 81 (8.38) 42 (8.30) 33 (8.51) 6 (8.22)
多条染色体三体 40 (4.14) 26 (5.14) 13 (3.35) 1 (1.37)
性染色体异常 47, XXX 1 (0.10) 1 (0.20) 0 (0.00) 0 (0.00)
47, XXY 3 (0.31) 2 (0.40) 1 (0.26) 0 (0.00)
47, XYY 1 (0.10) 0 (0.00) 1 (0.26) 0 (0.00)
48, XYYY 1 (0.10) 0 (0.00) 1 (0.26) 0 (0.00)
染色体单体 45, X 77 (7.96) 40 (7.91) 32 (8.25) 5 (6.85)
21单体 4 (0.41) 3 (0.59) 1 (0.26) 0 (0.00)
18四体 1 (0.10) 0 (0.00) 1 (0.16) 0 (0.00)
三倍体 128 (13.24) 53 (10.47) 66 (17.01) 9 (12.33)
数目异常总例数 801 (82.83) 408 (80.63) 331 (85.31) 62 (84.93)
检出率(%) 31.98 39.96 27.33 22.71