Zhang S, Zhou Y, Xiao G, Qiu X. Mol Genet Genomic Med. 2023;e2229. doi:10.1002/mgg3.2229 Open access: Learn more
Tags: Case Report / Case Series, 2023, China, RAAs, CNVs
- “Herein, we describe the clinical phenotypes and various prenatal diagnostic processes used for two rare cases of 9p duplication mosaicism [initially suspected based on NIPT results] and review the prior literature in the field to evaluate the merits of different methods for diagnosing mosaic 9p duplication.”
- “This study demonstrated the potential of using NIPT to suggest 9p duplication in early pregnancy.”