Non-invasive prenatal screening for Emanuel syndrome

Non-invasive prenatal screening for Emanuel syndrome

Abstract Objective The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromosome microduplication detection. Methods NIPS was performed to diagnose t...

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Bibliographic Details
Main Authors: Yuqin Luo, Jie Lin, Yixi Sun, Yeqing Qian, Liya Wang, Min Chen, Minyue Dong, Fan Jin
Format: Article
Language:English
Published: BMC 2020-03-01
Series:Molecular Cytogenetics
Subjects:
NIPS
Emanuel syndrome (ES)
Supernumerary
Microduplication
Translocation
SNP Array
Online Access:http://link.springer.com/article/10.1186/s13039-020-0476-7

Internet

http://link.springer.com/article/10.1186/s13039-020-0476-7

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