Detection and analysis of genomic copy number variations in a 46,X0, +der(?) fetus by array-based comparative genomic hybridization
- VernacularTitle:微阵列比较基因组杂交检测和分析一例46,X0,+der(?)胎儿的全基因组拷贝数变化
- Author:
Yanliang ZHANG
;
Yong DAI
;
Zhiguang TU
;
Qiyun LI
;
Jinghui REN
;
Li ZHANG
;
Linqian WANG
- Publication Type:Journal Article
- Keywords:
array-based comparative genomic hybridization;
G-banded chromosome analysis;
copy number alterations;
cytogenetic analysis
- From:
Basic & Clinical Medicine
2010;30(2):144-150
- CountryChina
- Language:Chinese
-
Abstract:
Objective To understand genomic copy number variations (CNVs) and ascertain karyotype for a 46,X0, + der(?) fetus, and investigate possibility and superiority of array-based comparative genomic hybridization (array-CGH ) in clinical cytogenetic diagnosis. Methods G-banded chromosome analysis was carried out. The whole genome of the fetus was scanned and analysed by array-CGH. The results of array-CGH were confirmed by RT-qPCR. Results G-banded chromosome analysis showed that the fetal karyotype was 46,X0, +der(?). Array-CGH revealed the derivative chromosome as Y chromosome without CNVs. A total number of 118 submicroscopic CNVs were identified. Comparable results between array-CGH and RT-qPCR were obtained for 9 novel CNVs. Conclusion Comparing with conventional cytogenetic analysis, array-CGH is of high resolution, high-throughput and high accuracy, which provides a technical platform for accurate detection of submicroscopic chromosomal aberrations.
