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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Dades bibliogràfiques
Publicat a:Mol Cytogenet
Autors principals: Chen, Jun-Kun, Liu, Ping, Hu, Li-Qin, Xie, Qing, Huang, Quan-Fei, Liu, Hai-Liang
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6001049/
https://ncbi.nlm.nih.gov/pubmed/29946361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0381-5
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