{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T05:45:00Z","timestamp":1780465500966,"version":"3.54.1"},"reference-count":32,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2022,6,29]],"date-time":"2022-06-29T00:00:00Z","timestamp":1656460800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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 severe intellectual disability with delayed speech development, short stature, facial dysmorphisms, osseous and articular abnormalities, congenital heart malformations, and skeletal and limb abnormalities. Prenatal diagnosis is often difficult due to the lack of a clear echographic sign like nuchal translucency (NT), and mostly cases were postnatally described. We report the first case of a 49,XXXXX female that was detected by non-invasive prenatal screening (NIPS), quantitative fluorescence polymerase chain reaction (QF-PCR) and a fetal karyotype.<\/jats:p>","DOI":"10.3390\/diagnostics12071591","type":"journal-article","created":{"date-parts":[[2022,6,29]],"date-time":"2022-06-29T20:47:56Z","timestamp":1656535676000},"page":"1591","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0553-2087","authenticated-orcid":false,"given":"Luigia","family":"De Falco","sequence":"first","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Suero","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Savarese","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Savarese","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Ruggiero","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Di Carlo","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariasole","family":"Bruno","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Petrillo","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Ianniello","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ciro","family":"Scarpato","sequence":"additional","affiliation":[{"name":"Responsabile Ambulatorio Medicina Prenatale, P.O.S. Giuliano, 80014 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5274-8112","authenticated-orcid":false,"given":"Camilla","family":"Sarli","sequence":"additional","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Universit\u00e0 di Napoli Federico II, 80138 Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, 80131 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Fico","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale srl, 80013 Naples, Italy"},{"name":"Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1136\/jcp.2004.017475","article-title":"A Case of 49,XXXXX in Which the Extra X Chromosomes Were Maternal in Origin","volume":"57","author":"Cho","year":"2004","journal-title":"J. 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