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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...
Autores principales: | van der Laan, Liselot, Hoekman, Daniel R., Wortelboer, Esther J., Mannens, Marcel M. A. M., Kooper, Angelique J. A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
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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