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Chromosomal mosaicism detected by karyotyping and chromosomal microarray analysis in prenatal diagnosis

17 Nov 2020

Abstract excerpt

To investigate the incidence and clinical significance of chromosomal mosaicism (CM) in prenatal diagnosis by G-banding karyotyping and chromosomal microarray analysis (CMA). This is a single-centre retrospective study of invasive prenatal diagnosis for CM. From 5758 karyotyping results and 6066 CMA results, 104 foetal cases with CM were selected and analysed further. In total, 50% (52/104) of foetal cases with...

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PMID: 33201576
DOI: 10.1111/jcmm.16080

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