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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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-05-01
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| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13052-025-01987-9 |
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