Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses

Abstract Background Detection of mosaicism has always been difficult in prenatal diagnosis, which is to assess the value of karyotyping combined with three different molecular genetic tests for prenatal diagnosis. Retrospective review of chromosomal mosaicism (CM) was conducted in 32,967 pregnant wo...

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Bibliographic Details
Main Authors: Yi Deng, Lan Zeng, Zhiling Wu, Jin Wang, Mengling Ye, Chun Chen, Ping Wei, Danni Wang, Guangming Deng, Shuyao Zhu
Format: Article
Language:English
Published: BMC 2025-04-01
Series:BMC Medical Genomics
Subjects:
Chromosomal mosaicism
Karyotyping
Chromosomal microarray analysis
Copy number variant sequencing
Prenatal diagnoses
Online Access:https://doi.org/10.1186/s12920-025-02138-z
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https://doi.org/10.1186/s12920-025-02138-z

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