Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX) and is probably due to a nondisjunction during the meiosis. So far, only five cases prenatally diagnosed were described. The main features in 49,XXXXX karyotype include...

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Bibliographic Details
Main Authors: Luigia De Falco, Teresa Suero, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Antonella Di Carlo, Mariasole Bruno, Nadia Petrillo, Monica Ianniello, Ciro Scarpato, Camilla Sarli, Antonio Fico
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Diagnostics
Subjects:
non-invasive prenatal screening (NIPS)
sex chromosome anomaly
prenatal screening
quantitative fluorescent-polymerase chain reaction (QF-PCR)
karyotype
Online Access:https://www.mdpi.com/2075-4418/12/7/1591

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https://www.mdpi.com/2075-4418/12/7/1591

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