A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)

A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)

Abstract Background Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing attention has been paid to the clinical application of the non-invasive de...

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Bibliographic Details
Main Authors: Jun-Kun Chen, Ping Liu, Li-Qin Hu, Qing Xie, Quan-Fei Huang, Hai-Liang Liu
Format: Article
Language:English
Published: BMC 2018-06-01
Series:Molecular Cytogenetics
Subjects:
The non-invasive prenatal testing (NIPT)
Sub-chromosomal abnormalities
Unbalanced translocation
X-chromosome inactivation
Online Access:http://link.springer.com/article/10.1186/s13039-018-0381-5

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http://link.springer.com/article/10.1186/s13039-018-0381-5

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