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BioMed Central, Molecular Cytogenetics, 1(16), 2023

DOI: 10.1186/s13039-023-00666-w

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Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere

Journal article published in 2023 by Liselot van der Laan ORCID, Daniel R. Hoekman, Esther J. Wortelboer, Marcel M. A. M. Mannens, Angelique J. A. Kooper
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

AbstractIn this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during genetic analysis of a chorionic villus sample in a fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing.