Application of various genetic analysis techniques for detecting two rare cases of 9p duplication mosaicism during prenatal diagnosis.

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.”