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目的了解18q等臂双着丝粒染色体[idic(18)(p11→qter)]胎儿全基因组拷贝数变化的情况,确定idic(18)(p11→qter)的结构和组成,探讨微阵列比较基因组杂交在分子细胞遗传诊断中运用的可行性和优越性。方法运用微阵列比较基因组杂交芯片对一被传统G显带和荧光原位杂交诊断为idic(18)(p11→qter)的胎儿进行全基因组高分辨率扫描和分析。结果微阵列比较基因组杂交显示胎儿存在18p11.21→pter缺失、18p11.21→qter复制,断裂点位于12 104 527～12 145 199(距离18p端粒),确定idic(18)(p11→qter)是idic(18)(p11.21→qter)。另外,还检测出了21个亚显微拷贝数变化。结论与传统的细胞遗传分析方法相比,微阵列比较基因组杂交不仅能准确、高分辨率和高通量地检测出基因组拷贝数变化,还能高分辨率地确定拷贝数变化的断裂点。
Objective To understand the changes of whole-genome copy number of the fetus with 18q isoforms (id11 (18) (p11 → qter)] and determine the structure and composition of idic (18) (p11 → qter) The feasibility and superiority of hybridization in molecular cytogenetic diagnosis. Methods Genome-wide high-resolution scanning and analysis of a fetus diagnosed as idic (18) (p11 → qter) by traditional G-banding and fluorescence in situ hybridization was performed using a microarray-based genomic hybridization chip. Results Microarray comparative genomic hybridization showed that there was 18p11.21 → pter deletion in fetus and 18p11.21 → qter duplication. The breakpoint was located at 12 104 527 ~ 12 145 199 (18p telomere), and idic (18) (p11 → qter) Is idic (18) (p11.21 → qter). In addition, 21 submicroscopic copy number changes were also detected. Conclusion Compared with traditional methods of cytogenetic analysis, microarray comparative genomic hybridization not only detects genomic copy number changes with accuracy, high resolution and high throughput, but also identifies break points with high copy-number changes.