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

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

Abstract In 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 fetu...

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Bibliographic Details
Main Authors: Liselot van der Laan, Daniel R. Hoekman, Esther J. Wortelboer, Marcel M. A. M. Mannens, Angelique J. A. Kooper
Format: Article
Language:English
Published: BMC 2023-11-01
Series:Molecular Cytogenetics
Subjects:
Neocentromere
Marker chromosome
False-negative NIPT
Placental mosaicism
Online Access:https://doi.org/10.1186/s13039-023-00666-w

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