Prenatal diagnosis and molecular cytogenetic characterization of 12 cases of chromosome 8 inverted duplication deletion syndrome
Abstract Background Inverted duplication of the short arm of chromosome 8 (inv dup del (8p)) and the deletion of its adjacent terminal represent a rare chromosomal rearrangement. To date, only a limited number of prenatal cases have been documented from a molecular cytogenetic perspective. This stud...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-025-03969-w |
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