Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere

Abstract

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 fetus with multiple congenital anomalies after a normal prenatal screening result by noninvasive prenatal testing.

Keywords

• Neocentromere
• Marker chromosome
• False-negative NIPT
• Placental mosaicism