Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome.
Huijsdens-van Amsterdam K, Page-Christiaens L, Flowers N, Bonifacio MD, Ellis KMB, Vogel I, Vestergaard EM, Miguelez J, de Carvalho MHB, Sistermans EA, Pertile MD.
Huijsdens-van Amsterdam K, et al. Among authors: bonifacio md.
Eur J Hum Genet. 2018 Oct;26(10):1490-1496. doi: 10.1038/s41431-018-0188-1. Epub 2018 Jun 13.
Eur J Hum Genet. 2018.
PMID: 29899373
Free PMC article.