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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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Principais autores: Liselot van der Laan, Daniel R. Hoekman, Esther J. Wortelboer, Marcel M. A. M. Mannens, Angelique J. A. Kooper
Formato: Artigo
Idioma:Inglês
Publicado: BMC 2023-11-01
Series:Molecular Cytogenetics
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Acceso en liña:https://doi.org/10.1186/s13039-023-00666-w
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