Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere-Reference-Cited by-同舟云学术

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

Published:2023-11-30 Issue:1 Volume:16 Page:
ISSN:1755-8166
Container-title:Molecular Cytogenetics
language:en
Short-container-title:Mol Cytogenet

Author:

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

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.

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry

Link

https://link.springer.com/content/pdf/10.1186/s13039-023-00666-w.pdf

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