Current status and prospect of genetic testing for chromosomal microdeletion and microduplication syndromes / 中华检验医学杂志
Chinese Journal of Laboratory Medicine
; (12): 407-409, 2016.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-494731
Responsible library:
WPRO
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, 39407-409 )
Full text:
Available
Database:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Laboratory Medicine
Year:
2016
Document type:
Article