{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T13:27:01Z","timestamp":1775741221556,"version":"3.50.1"},"reference-count":14,"publisher":"MDPI AG","issue":"16","license":[{"start":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T00:00:00Z","timestamp":1723161600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the University of Milano-Bicocca","award":["2023-ATE-0402"],"award-info":[{"award-number":["2023-ATE-0402"]}]},{"name":"the University of Milano-Bicocca","award":["2024-ATE-0194"],"award-info":[{"award-number":["2024-ATE-0194"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>When an increased nuchal translucency (&gt;3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of an invasive investigation. Here, we focused our attention on prenatal diagnosis issues in cases of foetuses with cytogenetically balanced reciprocal translocations. We report the finding of a cytogenetically balanced, de facto genomically unbalanced translocation that poses a challenge in a case of prenatal diagnosis, changing the risk of Down syndrome in a Zellweger syndromic spectrum risk (PEX3 deletion). At term, a healthy baby was born. This case teaches that prenatal diagnosis in cases of foetuses at increased risk of chromosomal abnormality imperatively requires molecular investigation in addition to a morphological karyotype.<\/jats:p>","DOI":"10.3390\/diagnostics14161732","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T09:48:54Z","timestamp":1723196934000},"page":"1732","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cytogenetically Balanced Reciprocal Translocation Could Hide Molecular Genomic Unbalances: Implications for Foetal Phenotype Correlation"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4439-9880","authenticated-orcid":false,"given":"Nicoletta","family":"Villa","sequence":"first","affiliation":[{"name":"UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0415-4085","authenticated-orcid":false,"given":"Serena","family":"Redaelli","sequence":"additional","affiliation":[{"name":"School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Farina","sequence":"additional","affiliation":[{"name":"UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"},{"name":"School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Sala","sequence":"additional","affiliation":[{"name":"UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Crosti","sequence":"additional","affiliation":[{"name":"UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Cozzolino","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Verderio","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leda","family":"Dalpr\u00e0","sequence":"additional","affiliation":[{"name":"UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"},{"name":"School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8515-0187","authenticated-orcid":false,"given":"Gaia","family":"Roversi","sequence":"additional","affiliation":[{"name":"UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"},{"name":"School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7535-846X","authenticated-orcid":false,"given":"Angela","family":"Bentivegna","sequence":"additional","affiliation":[{"name":"School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Cazzaniga","sequence":"additional","affiliation":[{"name":"UC Medical Genetics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy"},{"name":"School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4852-1318","authenticated-orcid":false,"given":"Marialuisa","family":"Lavitrano","sequence":"additional","affiliation":[{"name":"School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5665-9558","authenticated-orcid":false,"given":"Donatella","family":"Conconi","sequence":"additional","affiliation":[{"name":"School of Medicine and Surgery, University of Milano-Bicocca, 20900 Monza, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1002\/uog.14880","article-title":"Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: A systematic review and meta-analysis","volume":"46","author":"Grande","year":"2015","journal-title":"Ultrasound Obstet. 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