Published in
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 
,
Daniel R. Hoekman,
Esther J. Wortelboer,
Marcel M. A. M. Mannens,
Angelique J. A. Kooper
,
Daniel R. Hoekman,
Esther J. Wortelboer,
Marcel M. A. M. Mannens,
Angelique J. A. Kooper
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.