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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: ellis kmb. 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.
Rare autosomal trisomies: Important and not so rare.
Scott F, Bonifacio M, Sandow R, Ellis K, Smet ME, McLennan A. Scott F, et al. Prenat Diagn. 2018 Sep;38(10):765-771. doi: 10.1002/pd.5325. Epub 2018 Jul 17. Prenat Diagn. 2018. PMID: 29956348