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Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

10 Mar 2023

Abstract excerpt

Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods. The non-invasive prenatal testing (NIPT) results suggested trisomy 9 in two fetuses. Karyotype analysis of amniocytes showed a high level (42%–50%) of mosaicism, and chromosomal microarray analysis (CMA) of uncultured...

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PMID: 36968600
DOI: 10.3389/fgene.2023.1121121

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