{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:11:44Z","timestamp":1760145104351,"version":"build-2065373602"},"reference-count":52,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T00:00:00Z","timestamp":1718928000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Chromosomal rearrangements can interfere with the disjunction and segregation of other chromosome pairs not involved in the rearrangements, promoting the occurrence of numerical abnormalities in resulting gametes and predisposition to trisomy in offspring. This phenomenon of interference is known as the interchromosomal effect (ICE). Here we report a prenatal case potentially generated by ICE. The first-trimester screening ultrasound of the pregnant woman was normal, but the NIPT indicated a high risk for three copies of chromosome 21, thus suspecting trisomy 21 (T21). After a comprehensive clinical evaluation and genetic counseling, the couple decided to undergo amniocentesis. The prenatal karyotype confirmed T21 but also showed a balanced translocation between the long arm of chromosome 15 (q22) and the long arm of chromosome 22. The parents\u2019 karyotypes also showed that the mother had the 15;22 translocation. We reviewed T21 screening methods, and we performed a literature review on ICE, a generally overlooked phenomenon. We observed that ours is the first report of a prenatal case potentially due to ICE derived from the mother. The recurrence risk of aneuploidy in the offspring of translocated individuals is likely slightly increased, but it is not possible to estimate to what extent. In addition to supporting observations, there are still open questions such as, how frequent is ICE? How much is the aneuploidy risk altered by ICE?<\/jats:p>","DOI":"10.3390\/cells13131078","type":"journal-article","created":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T08:50:08Z","timestamp":1718959808000},"page":"1078","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Trisomy 21 with Maternally Inherited Balanced Translocation (15q;22q) in a Female Fetus: A Rare Case of Probable Interchromosomal Effect"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1569-1556","authenticated-orcid":false,"given":"Alessandro","family":"De Falco","sequence":"first","affiliation":[{"name":"U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Gambale","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5927-1185","authenticated-orcid":false,"given":"Michele","family":"Pinelli","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Suero","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale, Srl, 80013 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0553-2087","authenticated-orcid":false,"given":"Luigia","family":"De Falco","sequence":"additional","affiliation":[{"name":"AMES-Centro Polidiagnostico Strumentale, Srl, 80013 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9558-0356","authenticated-orcid":false,"given":"Achille","family":"Iolascon","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy"},{"name":"CEINGE Biotecnologie Avanzate, 80145 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5283-2840","authenticated-orcid":false,"given":"Stefania","family":"Martone","sequence":"additional","affiliation":[{"name":"U.O.C. Genetica Medica, A.O.U. Federico II, 80131 Naples, Italy"},{"name":"Department of Molecular Medicine and Medical Biotechnology, University Federico II, 80131 Naples, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"103543","DOI":"10.1016\/j.ejmg.2018.09.010","article-title":"A Survey of Undetected, Clinically Relevant Chromosome Abnormalities When Replacing Postnatal Karyotyping by Whole Genome Sequencing","volume":"62","author":"Hochstenbach","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1456","DOI":"10.1086\/344662","article-title":"Parental Origin and Timing of de Novo Robertsonian Translocation Formation","volume":"71","author":"Bandyopadhyay","year":"2002","journal-title":"Am. J. Hum. 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