Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker chromosome.

Kleinfinger P, Brechard M, Luscan A, et al. Front Genet. 2022;13:926290. Published 2022 Sep 26. doi:10.3389/fgene.2022.926290. Open Access Learn more

Tags: Case Report / Case Series, 2022, France, CNVs

  • GW-NIPT rapidly characterized supernumerary marker chromosomes for a patient in a time- and cost-effective manner – a pericentromeric 29 Mb dup (20) (p13q11.21) was identified and then confirmed by targeted FISH (fluorescence in situ hybridization).