SVseq discloses the genomic complexity of different prenatal, de novo, apparently balanced chromosome rearrangements detected by CMA and karyotype

Abstract Background Balanced chromosomal rearrangements (BCRs) are common structural variations (SVs), but only a small number of individuals with BCRs exhibit abnormalities. To better understand the different phenotypes in children diagnosed with BCRs during the prenatal period, we plan to thorough...

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Bibliographic Details
Main Authors: Shengfang Qin, Xueyan Wang, Chun Chen, Jin Wang, Zhuo Zhang, Yan Yin, Xiangyou Leng
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Italian Journal of Pediatrics
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Online Access:https://doi.org/10.1186/s13052-025-01987-9
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