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

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 mu...

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Detalles Bibliográficos
Autores principales: van der Laan, Liselot, Hoekman, Daniel R., Wortelboer, Esther J., Mannens, Marcel M. A. M., Kooper, Angelique J. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10687888/
https://www.ncbi.nlm.nih.gov/pubmed/38031124
http://dx.doi.org/10.1186/s13039-023-00666-w
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author van der Laan, Liselot
Hoekman, Daniel R.
Wortelboer, Esther J.
Mannens, Marcel M. A. M.
Kooper, Angelique J. A.
author_facet van der Laan, Liselot
Hoekman, Daniel R.
Wortelboer, Esther J.
Mannens, Marcel M. A. M.
Kooper, Angelique J. A.
author_sort van der Laan, Liselot
collection PubMed
description 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.
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spelling pubmed-106878882023-11-30 Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere van der Laan, Liselot Hoekman, Daniel R. Wortelboer, Esther J. Mannens, Marcel M. A. M. Kooper, Angelique J. A. Mol Cytogenet Case Report 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. BioMed Central 2023-11-30 /pmc/articles/PMC10687888/ /pubmed/38031124 http://dx.doi.org/10.1186/s13039-023-00666-w Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
van der Laan, Liselot
Hoekman, Daniel R.
Wortelboer, Esther J.
Mannens, Marcel M. A. M.
Kooper, Angelique J. A.
Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
title Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
title_full Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
title_fullStr Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
title_full_unstemmed Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
title_short Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
title_sort prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10687888/
https://www.ncbi.nlm.nih.gov/pubmed/38031124
http://dx.doi.org/10.1186/s13039-023-00666-w
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