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...
Autors principals: | , , , , |
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Format: | Article |
Idioma: | English |
Publicat: |
BMC
2023-11-01
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Col·lecció: | Molecular Cytogenetics |
Matèries: | |
Accés en línia: | https://doi.org/10.1186/s13039-023-00666-w |