Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect

Multiplex ligation dependent probe amplification - A useful, fast and cost-effective method for identification of small supernumerary marker chromosome in children with developmental delay and congenital heart defect

Small supernumerary marker chromosome (sSMC) is a rare chromosomal abnormality and is detected in about 0.3% in cases with multiple congenital anomalies (MCA) and/or developmental delay. Different techniques for investigation of cases with MCA and/or developmental delay are available ranging from ka...

Full description

Bibliographic Details
Main Authors: Crauciuc George Andrei, Tripon Florin, Bogliş Alina, Făgărăşan Amalia, Bănescu Claudia
Format: Article
Language:English
Published: Sciendo 2018-10-01
Series:Romanian Journal of Laboratory Medicine
Subjects:
supernumerary marker chromosomes
multiplex ligation dependent probe amplification
congenital anomalies
Online Access:https://doi.org/10.2478/rrlm-2018-0032

Similar Items

Similar Items