{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T14:50:34Z","timestamp":1791989434311,"version":"4.4.0"},"reference-count":37,"publisher":"Wiley","issue":"19","license":[{"start":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T00:00:00Z","timestamp":1786924800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T00:00:00Z","timestamp":1786924800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2026,10]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n Deletions involving the 1q43q44 region are among the most recurrent terminal chromosomal imbalances and are associated with a recognizable neurodevelopmental phenotype. These deletions may occur as isolated events or in the context of more complex rearrangements.<\/jats:p>\n <\/jats:sec>\n \n Case Presentation<\/jats:title>\n \n We describe presumed monozygotic twin sisters (patients 1 and 2) with a\n de novo<\/jats:italic>\n 1q43q44 deletion and an unrelated patient (patient 3) carrying a similar deletion combined with a 21q22.3 duplication derived from a t(1;21)(q43;q22.3)mat. All three patients exhibited features consistent with the distal 1q43q44 deletion syndrome, including microcephaly, corpus callosum abnormalities, developmental delay, intellectual disability, language impairment, hypotonia, micro\u2212\/retrognathia, and congenital heart defects.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Cytogenetics and FISH analyses confirmed distal 1q deletions in all patients. Chromosomal microarray analysis identified a ~9.5\u2009Mb deletion in patient 1 (her twin was not tested) and a ~12.1\u2009Mb deletion in patient 3. Despite differences in deletion size and genomic context, both rearrangements disrupted a largely overlapping interval containing 171 genes, including the dosage\u2010sensitive neurodevelopmental genes\n AKT3<\/jats:italic>\n ,\n HNRNPU<\/jats:italic>\n , and\n ZBTB18<\/jats:italic>\n as well as other monoallelic expressed genes (\n GREM2<\/jats:italic>\n and\n NLRP3<\/jats:italic>\n ) and, in patient 3 only,\n RYR2<\/jats:italic>\n . Functional enrichment analyses highlighted pathways related to neurodevelopment, epilepsy, and cardiac function. Although the twins showed similar congenital manifestations, patient 1 later developed seizures whose origin could not be assessed.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n These findings further support the role of haploinsufficient genes within the distal 1q43q44 region, particularly\n AKT3<\/jats:italic>\n ,\n HNRNPU<\/jats:italic>\n , and\n ZBTB18<\/jats:italic>\n , to the core neurodevelopmental phenotype and highlight the value of high\u2010resolution genomic analysis for patient characterization.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jcla.70338","type":"journal-article","created":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T07:22:01Z","timestamp":1786951321000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a\n de novo<\/i>\n Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9451-6483","authenticated-orcid":false,"given":"Ma. Guadalupe","family":"Dom\u00ednguez\u2010Quezada","sequence":"first","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente Instituto Mexicano del Seguro Social Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6940-0668","authenticated-orcid":false,"given":"Horacio","family":"Rivera","sequence":"additional","affiliation":[{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud Universidad de Guadalajara Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6096-4579","authenticated-orcid":false,"given":"Luis E.","family":"Figuera","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente Instituto Mexicano del Seguro Social Guadalajara Mexico"},{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud Universidad de Guadalajara Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6607-5553","authenticated-orcid":false,"given":"Patricio","family":"Barros\u2010N\u00fa\u00f1ez","sequence":"additional","affiliation":[{"name":"Doctorado en Gen\u00e9tica Humana, Centro Universitario de Ciencias de la Salud Universidad de Guadalajara Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Luis","family":"Castrillo","sequence":"additional","affiliation":[{"name":"Leire Genomics Lab. Hospital Aranda de la Parra Le\u00f3n Guanajuato Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0780-3004","authenticated-orcid":false,"given":"Carlos","family":"C\u00f3rdova\u2010Fletes","sequence":"additional","affiliation":[{"name":"Laboratorio de Citogen\u00f3mica y Microarreglos, Departamento de Bioqu\u00edmica, Facultad de Medicina Universidad Aut\u00f3noma de Nuevo Le\u00f3n Monterrey Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2645-4161","authenticated-orcid":false,"given":"Thania Alejandra","family":"Aguayo\u2010Orozco","sequence":"additional","affiliation":[{"name":"Divisi\u00f3n de Gen\u00e9tica, Centro de Investigaci\u00f3n Biom\u00e9dica de Occidente Instituto Mexicano del Seguro Social Guadalajara Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.3.175"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31611"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1073-y"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.77"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.055830"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32427"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1772-0"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-022-00620-2"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.06.004"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000504424"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291129"},{"issue":"3","key":"e_1_2_12_13_1","first-page":"455","article-title":"New Deletion Syndrome: 1q43","volume":"33","author":"Juberg R. 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