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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)

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 detection...

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Detalles Bibliográficos
Autores principales: Chen, Jun-Kun, Liu, Ping, Hu, Li-Qin, Xie, Qing, Huang, Quan-Fei, Liu, Hai-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001049/
https://www.ncbi.nlm.nih.gov/pubmed/29946361
http://dx.doi.org/10.1186/s13039-018-0381-5