{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T08:29:54Z","timestamp":1766219394433,"version":"3.48.0"},"reference-count":9,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_crpm-2024-0031_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Partial trisomy of chromosome 1 has been reported following unbalanced translocations with partial monosomies of other chromosomes and rarely as a pure partial duplication. We aim to discuss partial trisomy 1q with cytogenetics and describe our findings of this uncommon chromosomal aneuploidy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2024-0031_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A male term neonate presented with antenatal ventriculomegaly and early fetal growth restriction. He was dysmorphic at birth and his postnatal course was complicated by transient myeloproliferative disorder, neonatal seizures, skin rash, conjugated hyperbilirubinemia, and milk protein allergy. Etiological work-ups including congenital infections, immunological disorders, and inborn error of metabolisms were negative. The findings of transient myeloproliferative disorder in association with partial 1q trisomy which have not been previously described in the literature, raise the possibility of abnormal vasculature of generalized nature, resulting in cutis marmorata, signs of intestinal inflammation, and abnormal cerebral vascular supply.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2024-0031_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This case study highlights the importance of pooling cases with similar locations of duplication, segment size, and related chromosomal deficiency together to understand distinct clinical phenotypes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/crpm-2024-0031","type":"journal-article","created":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T14:03:52Z","timestamp":1748613832000},"source":"Crossref","is-referenced-by-count":0,"title":["Duplication of chromosome 1q32.1q44: presented with ventriculomegaly and transient myeloproliferative disorder of the newborn"],"prefix":"10.1515","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3231-2231","authenticated-orcid":false,"given":"Medha","family":"Goyal","sequence":"first","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics , McMaster Children\u2019s Hospital, McMaster University , Hamilton , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malgorzata Joanna","family":"Nowaczyk","sequence":"additional","affiliation":[{"name":"Division of Clinical Pathology and Molecular Medicine , McMaster University , Hamilton , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vicky","family":"Breakey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , McMaster Children\u2019s Hospital, McMaster University , Hamilton , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"McCready","sequence":"additional","affiliation":[{"name":"Division of Clinical Pathology and Molecular Medicine , McMaster University , Hamilton , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4677-6456","authenticated-orcid":false,"given":"Ipsita","family":"Goswami","sequence":"additional","affiliation":[{"name":"Division of Neonatology, Department of Pediatrics , McMaster Children\u2019s Hospital, McMaster University , Hamilton , Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,5,28]]},"reference":[{"key":"2025122008251829686_j_crpm-2024-0031_ref_001","doi-asserted-by":"crossref","unstructured":"Bonfante, A, Stella, M, Rossi, G. Partial trisomy of the long arm of chromosome 1 due to a familial translocation t (1; 10)(q32; q26). Hum Genet 1978;45:339\u201343. https:\/\/doi.org\/10.1007\/bf00278732.","DOI":"10.1007\/BF00278732"},{"key":"2025122008251829686_j_crpm-2024-0031_ref_002","doi-asserted-by":"crossref","unstructured":"Sayers, EW, Beck, J, Bolton, EE, Bourexis, D, Brister, JR, Canese, K, et al.. Database resources of the National Center for biotechnology information. Nucl Acids Res 2021;49:D10. https:\/\/doi.org\/10.1093\/nar\/gkaa892.","DOI":"10.1093\/nar\/gkaa892"},{"key":"2025122008251829686_j_crpm-2024-0031_ref_003","doi-asserted-by":"crossref","unstructured":"Nowaczyk, MJ, Bayani, J, Freeman, V, Watts, J, Squire, J, Xu, J. De novo 1q32q44 duplication and distal 1q trisomy syndrome. Am J Med Genet 2003;120:229\u201333. https:\/\/doi.org\/10.1002\/ajmg.a.20028.","DOI":"10.1002\/ajmg.a.20028"},{"key":"2025122008251829686_j_crpm-2024-0031_ref_004","doi-asserted-by":"crossref","unstructured":"Balasubramanian, M, Barber, JC, Collinson, MN, Huang, S, Maloney, VK, Bunyan, D, et al.. Inverted duplication of 1q32. 1 to 1q44 characterized by array CGH and review of distal 1q partial trisomy. Am J Med Genet 2009;149:793\u20137. https:\/\/doi.org\/10.1002\/ajmg.a.32463.","DOI":"10.1002\/ajmg.a.32463"},{"key":"2025122008251829686_j_crpm-2024-0031_ref_005","doi-asserted-by":"crossref","unstructured":"Johnson, VP. Duplication of the distal part of the long arm of chromosome 1. Am J Med Genet 1991;39:258\u201369. https:\/\/doi.org\/10.1002\/ajmg.1320390305.","DOI":"10.1002\/ajmg.1320390305"},{"key":"2025122008251829686_j_crpm-2024-0031_ref_006","doi-asserted-by":"crossref","unstructured":"Nu\u00f1o-Arana, I, Gonz\u00e1lez-Garc\u00eda, JR, Garc\u00eda-Cruz, D. Further clinical delineation in trisomy 1q32 syndrome. Annales de genetique 2001;44:175\u20137. https:\/\/doi.org\/10.1016\/s0003-3995(01)01093-0.","DOI":"10.1016\/S0003-3995(01)01093-0"},{"key":"2025122008251829686_j_crpm-2024-0031_ref_007","doi-asserted-by":"crossref","unstructured":"Liu, M, Ren, Y, Wang, X, Lu, X, Li, M, Kim, YM, et al.. Two rare cases\u00a0of\u00a0acute\u00a0myeloid leukemia with t (8; 16)(p11. 2; p13. 3) and 1q duplication: case\u00a0presentation and literature review. Mol Cytogenet 2020;13:1\u20139. https:\/\/doi.org\/10.1186\/s13039-020-00507-0.","DOI":"10.1186\/s13039-020-00507-0"},{"key":"2025122008251829686_j_crpm-2024-0031_ref_008","doi-asserted-by":"crossref","unstructured":"Loh, TJ, Lian, DW, Iyer, P, Lam, JC, Kuick, CH, Aung, AC, et al.. Congenital GATA1-mutated myeloproliferative disorder in trisomy 21 complicated by placental fetal thrombotic vasculopathy. Hum Pathol 2014;45:2364\u20137. https:\/\/doi.org\/10.1016\/j.humpath.2014.07.019.","DOI":"10.1016\/j.humpath.2014.07.019"},{"key":"2025122008251829686_j_crpm-2024-0031_ref_009","doi-asserted-by":"crossref","unstructured":"Kim, WK, Lee, NM, Lim, IS, Chae, SA, Yun, SW, Yi, DY, et al.. Developmental delay and rehabilitation in an infant with partial trisomy 1q32. 1 to 1q44: a case report. 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