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)

@inproceedings{Chen2018AFW,
  title={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)},
  author={Jun-Kun Chen and Ping Liu and Li-qin Hu and Qing Xie and Quan-fei Huang and Hai-Liang Liu},
  booktitle={Molecular cytogenetics},
  year={2018}
}
BackgroundNon-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 of foetal sub-chromosomal duplications and deletions beyond common aneuploidies.Case presentationA 32-year-old healthy pregnant woman was referred to the Medical Genetic Centre of Ganzhou Maternal and… CONTINUE READING

Citations

Publications citing this paper.

References

Publications referenced by this paper.
SHOWING 1-10 OF 28 REFERENCES

Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA.

  • Proceedings of the National Academy of Sciences of the United States of America
  • 2015
VIEW 1 EXCERPT

Noninvasive prenatal testing: the future is now.

  • Reviews in obstetrics & gynecology
  • 2013
VIEW 1 EXCERPT