{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:16:39Z","timestamp":1760145399840,"version":"build-2065373602"},"reference-count":32,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T00:00:00Z","timestamp":1720742400000},"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>Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations: microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip\/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features.<\/jats:p>","DOI":"10.3390\/genes15070910","type":"journal-article","created":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T16:23:41Z","timestamp":1720801421000},"page":"910","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["invdup(8)(8q24.13q24.3)\u2014A Complex Alteration and Its Clinical Consequences"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7814-2936","authenticated-orcid":false,"given":"Rafaella","family":"Mergener","sequence":"first","affiliation":[{"name":"Post-Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5808-8848","authenticated-orcid":false,"given":"Marcela Rodrigues","family":"Nunes","sequence":"additional","affiliation":[{"name":"Post-Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil"},{"name":"Medical Genetics Resident, Irmandade da Santa Casa de Miseric\u00f3rdia de Porto Alegre (ISCMPA), Porto Alegre 90020-090, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4654-8534","authenticated-orcid":false,"given":"Ana Kalise","family":"B\u00f6ttcher","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Biomedical Science, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7206-1887","authenticated-orcid":false,"given":"Monique Banik","family":"Siqueira","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Biomedical Sciences, Universidade do Vale do Rio dos Sinos (UNISINOS), S\u00e3o Leopoldo 93022-750, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8737-0111","authenticated-orcid":false,"given":"Helena Froener","family":"Peruzzo","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Biomedical Science, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milene Carvalho","family":"Merola","sequence":"additional","affiliation":[{"name":"Undergraduate Program in Biomedical Science, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6397-1301","authenticated-orcid":false,"given":"Mariluce","family":"Riegel","sequence":"additional","affiliation":[{"name":"Casa dos Raros, Center for Comprehensive Care and Training in Rare Diseases, Porto Alegre 90610-261, RS, Brazil"},{"name":"National Institute of Population Medical Genetics (INAGEMP), Porto Alegre 90035-903, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7628-4877","authenticated-orcid":false,"given":"Paulo Ricardo Gazzola","family":"Zen","sequence":"additional","affiliation":[{"name":"Post-Graduate Program in Pathology, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA), Porto Alegre 90050-170, RS, Brazil"},{"name":"Medical Genetics, Department of Clinical Medicine, Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre(UFCSPA), Porto Alegre 90020-090, RS, Brazil"},{"name":"Irmandade da Santa Casa de Miseric\u00f3rdia de Porto Alegre (ISCMPA), Porto Alegre 90050-170, RS, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"W170","DOI":"10.1093\/nar\/gkaa388","article-title":"3D-GNOME 2.0: A three-dimensional genome modeling engine for predicting structural variation-driven alterations of chromatin spatial structure in the human genome","volume":"48","author":"Wlasnowolski","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ejmg.2011.09.001","article-title":"A de novo 8q22.2-24.3 duplication in a patient with mild phenotype","volume":"55","author":"Concolino","year":"2012","journal-title":"Eur. 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