微阵列比较基因组杂交分析18等臂双着丝粒染色体胎儿全基因组拷贝数变化

张艳亮; 戴勇; 涂植光; 李启运; 吴瑛; 曾君; 林秀华; 张丽

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微阵列比较基因组杂交分析18等臂双着丝粒染色体胎儿全基因组拷贝数变化

论著 | 更新时间：2026-01-09

- 微阵列比较基因组杂交分析18等臂双着丝粒染色体胎儿全基因组拷贝数变化
- Experimental study of whole genomic copy number variations in a fetus with a de novo isodicentric chromosome 18 by array-based comparative genomic hybridization
- 陆军军医大学学报 2009年31卷第11期页码：1037-1040
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  中图分类号： R318.04;R446.69;R714.55
- 纸质出版：2009
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张艳亮,戴勇,涂植光,李启运,吴瑛,曾君,林秀华,张丽.微阵列比较基因组杂交分析18等臂双着丝粒染色体胎儿全基因组拷贝数变化[J].陆军军医大学学报(原第三军医大学学报),2009,31(11):1037-1040.

　ZHANG Yan-liang,DAI Yong,TU Zhi-guang,LI Qi-yun,WU Ying,ZENG Jun,LIN Xiu-hua,ZHANG Li.Experimental study of whole genomic copy number variations in a fetus with a de novo isodicentric chromosome 18 by array-based comparative genomic hybridization[J].J Amry Med Univ (J Third Mil Med Univ),2009,31(11):1037-1040.
张艳亮,戴勇,涂植光,李启运,吴瑛,曾君,林秀华,张丽.微阵列比较基因组杂交分析18等臂双着丝粒染色体胎儿全基因组拷贝数变化[J].陆军军医大学学报(原第三军医大学学报),2009,31(11):1037-1040. DOI：

　ZHANG Yan-liang,DAI Yong,TU Zhi-guang,LI Qi-yun,WU Ying,ZENG Jun,LIN Xiu-hua,ZHANG Li.Experimental study of whole genomic copy number variations in a fetus with a de novo isodicentric chromosome 18 by array-based comparative genomic hybridization[J].J Amry Med Univ (J Third Mil Med Univ),2009,31(11):1037-1040. DOI：

摘要

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。

Abstract

Objective To understand the genomic copy number variations (CNVs) in a fetus with a de novo isodicentric chromosome 18q[idic(18)(p11→qter)]

identify the organization and components of the idic(18)(p11→qter)

and investigate the possibility and superiority of array-based comparative genomic hybridization (array-CGH) in molecular cytogenetic diagnosis. Methods The whole genome of a fetus with idic(18)(p11→qter) diagnosed by G-banding and fluorescence in situ hybridization was scanned and analyzed by array-CGH. Results The results of array-CGH showed deletion of 18p11.21→pter and duplication of 18p11.21→qter. The breakpoint was between 12 104 527 and 12 145 199 (from the telomere of 18p)

indicating the idic(18)(p11→qter) was idic(18)(p11.21→qter) actually. Further more

21 submicroscopic genomic CNVs were identified. Conclusion Compared with conventional cytogenetic analysis

array-CGH can not only detect genomic CNVs with high accuracy

high resolution

and high-throughput

but also identify breakpoints of CNVs with high resolution.

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