@article{4208494c86f74115b773ab7c34123bf7,
title = "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 fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing.",
keywords = "False-negative NIPT, Marker chromosome, Neocentromere, Placental mosaicism",
author = "{van der Laan}, Liselot and Hoekman, {Daniel R.} and Wortelboer, {Esther J.} and Mannens, {Marcel M.A.M.}",
note = "Funding Information: We would like to thank the parents of our patient for their cooperation and our colleagues from the cytogenetics laboratory; Carol de Koning, Jaime Houterman, Yasmin Stoop, Judith van de Brug, Bart Essink and Jos Roozendaal. Publisher Copyright: {\textcopyright} 2023, The Author(s).",
year = "2023",
month = dec,
doi = "https://doi.org/10.1186/s13039-023-00666-w",
language = "English",
volume = "16",
journal = "Molecular Cytogenetics",
issn = "1755-8166",
publisher = "BioMed Central",
number = "1",
}