Current status and prospect of genetic testing for chromosomal microdeletion and microduplication syndromes
10.3760/cma.j.issn.1009-9158.2016.06.003
- VernacularTitle:染色体微缺失微重复综合征遗传检测的现状及展望
- Author:
Zengge WANG
;
Qiwei GUO
;
Yulin ZHOU
- Publication Type:Journal Article
- Keywords:
Chromosome Aberrations;
Chromosome deletion;
Chromosome duplication;
In situ hybridization,fluorescence;
Microarray analysis;
Polymerase chain reaction;
High-throughput nucleotide sequencing;
Developmental disabilities
- From:
Chinese Journal of Laboratory Medicine
2016;39(6):407-409
- CountryChina
- Language:Chinese
-
Abstract:
Chromosomal microdeletion and microduplication syndromes are common genetic diseases.Technologies including fluorescence in situ hybridization , chromosomal microarray , real-time PCR, multiplex ligation-dependent probe amplification and high-throughput sequencing have been used to detect these diseases . The advantages and limitations of these technologies as well as their clinical applications in the detection of chromosomal microdeletion and microduplication syndromes are analyzed . (Chin J Lab Med, 2016, 39:407-409 )
