{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T11:40:27Z","timestamp":1756294827254,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"12","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,12,10]]},"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:p>Complete trisomy 5 is a rare and lethal abnormality. Mosaic trisomy 5 presents in various phenotypes, ranging from a clinically normal fetus to fetuses presenting uterine growth restriction, congenital heart anomalies, multiple dysmorphic features and psychomotor development abnormalities. Although rare, there are cases of a normal psychomotor development regardless of the associated low fetal growth frequently associated with mosaic trisomy 5. This is the first case report to date of a live fetus with complete trisomy 5 reported in chorionic villus sampling and mosaic trisomy 5 in amniotic fluid with a concomitant Ebstein anomaly. Diagnosis of mosaic trisomy 5 represents a challenge for the clinical team and patients, as the information regarding this syndrome is scarce and based mostly on case reports of liveborns, which may introduce a selection bias when counselling the parents.<\/jats:p>","DOI":"10.1136\/bcr-2023-256474","type":"journal-article","created":{"date-parts":[[2023,12,30]],"date-time":"2023-12-30T10:35:13Z","timestamp":1703932513000},"page":"e256474","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Mosaic trisomy 5 in amniotic fluid in a live fetus with Ebstein anomaly and complete trisomy 5 in chorionic villus sampling"],"prefix":"10.1136","volume":"16","author":[{"given":"Ana","family":"Andrade","sequence":"first","affiliation":[{"name":"Obstetrics and Gynecology, Centro Hospitalar Universit\u00e1rio do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Porto, Portugal"}]},{"given":"Ana","family":"Cunha","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology, Centro Hospitalar Universit\u00e1rio do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Porto, Portugal"},{"name":"Unidade de Investiga\u00e7\u00e3o e Forma\u00e7\u00e3o, Centro Hospitalar Universit\u00e1rio do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Porto, Portugal"}]},{"given":"Nat\u00e1lia","family":"Teles","sequence":"additional","affiliation":[{"name":"Unidade de Citogen\u00e9tica, Centro de Gen\u00e9tica M\u00e9dica Doutor Jacinto Magalh\u00e3es (CGM), Centro Hospitalar do Porto (CHUPorto), Porto, Portugal"},{"name":"UMIB \u2013 Unidade Multidisciplinar de Investiga\u00e7\u00e3o Biom\u00e9dica, ICBAS \u2013 Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar, Universidade do Porto, Porto, Portugal"}]},{"given":"Lu\u00eds","family":"Guedes-Martins","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology, 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