Application of array CGH in genetic diagnosis of clinical complex chromosomal abnormalities
10.3760/cma.j.issn.1009-9158.2013.01.012
- VernacularTitle:高分辨微阵列比较基因组杂交技术在临床复杂染色体异常遗传诊断中的应用
- Author:
Yunsheng GE
;
Hui KONG
;
Huan ZENG
;
Yu JIANG
;
Qiwei GUO
;
Jian LI
;
Xinli HUANG
;
Yulin ZHOU
- Publication Type:Journal Article
- Keywords:
Comparative genomic hybridization;
Microarray analysis;
Chromosome aberrations;
Karyotyping;
Genome,human;
Prenatal diagnosis
- From:
Chinese Journal of Laboratory Medicine
2013;(1):46-49
- CountryChina
- Language:Chinese
-
Abstract:
Objective To evaluate application feasibility of Array CGH in genetic diagnosis of clinical complex chromosomal abnormalities.Methods Two patients of genetic counseling and two patients of prenatal diagnosis were selected from Xiamen Maternity & Child Health Care Hospital during the period of December 2010 to December 2011.Under aseptic conditions 2-4 ml peripheral blood was collected in EDTA and 2-3 ml Cord Blood was collected through cordocentesis after genetic counseling and preoperative examination.G-banded chromosome analysis and genome DNA extraction were carried out on the four cases.The whole genome of four cases were scanned and analyzed by Array CGH.The results of Array CGH were confirmed by FISH.Results Array CGH detected different kinds of duplications and deletions in several chromosomes.Most of these duplications and deletions were not detected by karyotype analysis.The results of Array CGH showed duplication of 4p16.3-4p15.31,deletion of 4p16.3 in the first case,duplication of Xp11.22-Xq11.1 in the second case,duplication of 4p16.3-4p15.32,deletion of 2q37.3 in the third case and duplication of 2q21.2-2q32.1,deletion of 2q14.3-2q21.1 in the fourth case.These duplications and deletions were confirmed by FISH.Conclusions Compared with conventional cytogenetic analysis,Array CGH can not only accurately detect micro deletion and micro duplication with high resolution and sensitivity but also identify breakpoints precisely.Array CGH can provide the basis for clinical genetic diagnosis.
