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

Internet

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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