Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies
Objective: The 18q terminal deletion with inverted duplication is an extremely rare abnormality, with only three confirmed cases in Europe to date. Here, we report, for the first time, a case of de novo 18q inv-dup-del in a Turkish pregnant woman. Case report: A 30-year-old pregnant woman was referr...
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| Main Authors: | , , , , , , , , |
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| Format: | Book |
| Published: |
Elsevier,
2022-05-01T00:00:00Z.
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