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 multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing.
CITATION STYLE
van der Laan, L., Hoekman, D. R., Wortelboer, E. J., Mannens, M. M. A. M., & Kooper, A. J. A. (2023). Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere. Molecular Cytogenetics, 16(1). https://doi.org/10.1186/s13039-023-00666-w
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