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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Auteurs principaux: Emine Ikbal Atli, Engin Atli, Cihan Inan, Gülizar Fusun Varol, Cisem Mail, Esra Altan Erbilen, Sinem Yalcintepe, Selma Demir, Hakan Gurkan
Format: Artigo
Langue:Inglês
Publié: Elsevier 2022-05-01
Collection:Taiwanese Journal of Obstetrics & Gynecology
Sujets:
Prenatal diagnosis
Pericentric inversion
Chromosome 18
Karyotyping
Accès en ligne:http://www.sciencedirect.com/science/article/pii/S1028455922000869
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