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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Detalles Bibliográficos
Autores principales: De Falco, Luigia, Suero, Teresa, Savarese, Giovanni, Savarese, Pasquale, Ruggiero, Raffaella, Di Carlo, Antonella, Bruno, Mariasole, Petrillo, Nadia, Ianniello, Monica, Scarpato, Ciro, Sarli, Camilla, Fico, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321121/
https://www.ncbi.nlm.nih.gov/pubmed/35885497
http://dx.doi.org/10.3390/diagnostics12071591

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9321121/
https://www.ncbi.nlm.nih.gov/pubmed/35885497
http://dx.doi.org/10.3390/diagnostics12071591

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