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

Liselot van der Laan; Daniel R Hoekman; Esther J Wortelboer; Marcel M A M Mannens; Angelique J A Kooper

doi:10.1186/s13039-023-00666-w

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

Mol Cytogenet. 2023 Nov 30;16(1):34. doi: 10.1186/s13039-023-00666-w.

Authors

Liselot van der Laan¹, Daniel R Hoekman¹, Esther J Wortelboer¹, Marcel M A M Mannens¹, Angelique J A Kooper²

Affiliations

¹ Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
² Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands. a.j.kooper@amsterdamumc.nl.

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 fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing.

Keywords: False-negative NIPT; Marker chromosome; Neocentromere; Placental mosaicism.