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

• Main Authors: Emine Ikbal Atli (Author), Engin Atli (Author), Cihan Inan (Author), Gülizar Fusun Varol (Author), Cisem Mail (Author), Esra Altan Erbilen (Author), Sinem Yalcintepe (Author), Selma Demir (Author), Hakan Gurkan (Author)
• Format: Book
• Published: Elsevier, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...