{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T21:25:35Z","timestamp":1789075535866,"version":"build-2803163510"},"reference-count":24,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,16]],"date-time":"2024-01-16T00:00:00Z","timestamp":1705363200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The translocation of the testis-determining factor, the SRY gene, from the Y to the X chromosome is a rare event that causes abnormalities in gonadal development. In all cases of males and females carrying this translocation, disorder of sex development is reported. In our study, we described a peculiar pedigree with the first evidence of four healthy females from three generations who are carriers of the newly identified t(X;Y)(q28;p11.2)(SRY+) translocation with no evidence of ambiguous genitalia or other SRY-dependent alterations. Our study was a consequence of a Non-Invasive Prenatal Test (NIPT) showing a sexual chromosomal abnormality (XXY) followed by a chorionic villus analysis suggesting a normal karyotype 46,XX and t(X;Y) translocation detected by FISH. Here, we (i) demonstrated the inheritance of the translocation in the maternal lineage via karyotyping and FISH analysis; (ii) characterised the structural rearrangement via chromosomal microarray; and (iii) demonstrated, via Click-iT\u00ae EdU Imaging assay, that there was an absolute preferential inactivation of the der(X) chromosome responsible for the lack of SRY expression. Overall, our study provides valuable genetic and molecular information that may lead personal and medical decisions.<\/jats:p>","DOI":"10.3390\/genes15010103","type":"journal-article","created":{"date-parts":[[2024,1,16]],"date-time":"2024-01-16T04:03:30Z","timestamp":1705377810000},"page":"103","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Non-Invasive Prenatal Test Analysis Opens a Pandora\u2019s Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1473-0330","authenticated-orcid":false,"given":"Cristina","family":"Politi","sequence":"first","affiliation":[{"name":"Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0268-5536","authenticated-orcid":false,"given":"Katia","family":"Grillone","sequence":"additional","affiliation":[{"name":"Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Nocera","sequence":"additional","affiliation":[{"name":"Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Colao","sequence":"additional","affiliation":[{"name":"Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Bellisario","sequence":"additional","affiliation":[{"name":"Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8837-3519","authenticated-orcid":false,"given":"Sara","family":"Loddo","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Catino","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9037-4297","authenticated-orcid":false,"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Ges\u00f9 Children Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8836-5386","authenticated-orcid":false,"given":"Nicola","family":"Perrotti","sequence":"additional","affiliation":[{"name":"Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy"},{"name":"Department of Human Health, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, Localit\u00e0 Germaneto, 88100 Catanzaro, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8524-7402","authenticated-orcid":false,"given":"Rodolfo","family":"Iuliano","sequence":"additional","affiliation":[{"name":"Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy"},{"name":"Department of Human Health, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, Localit\u00e0 Germaneto, 88100 Catanzaro, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Malatesta","sequence":"additional","affiliation":[{"name":"Medical Genetics, Renato Dulbecco University Hospital, Viale T. Campanella 115, 88100 Catanzaro, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1007\/s10815-013-9939-7","article-title":"Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: Case reports","volume":"30","author":"Gao","year":"2013","journal-title":"J. Assist. Reprod. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1136\/jmg.2004.022053","article-title":"Variability of sexual phenotype in 46,XX(SRY+) patients: The influence of spreading X inactivation versus position effects","volume":"42","author":"Sharp","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_3","first-page":"138","article-title":"47,XXY female with testicular feminization and positive SRY: A case report","volume":"50","year":"2005","journal-title":"J. Reprod. 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