{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T05:37:20Z","timestamp":1792647440841,"version":"4.5.0"},"reference-count":9,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,2,1]]},"abstract":"<jats:sec>\n                    <jats:title>Summary<\/jats:title>\n                    <jats:p>We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and started insulin therapy with multiple daily doses, and then she started to use a continuous insulin infusion system (pump) at 10 years of age. At the age of 12, she underwent a molecular study that identified an unbalanced translocation between the short arms of chromosomes 6 and 8 \u2013 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22\u2212).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Learning points<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Patients with an unbalanced translocation between the short arms of chromosomes 6 and 8 \u2013 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present syndromic features suggestive of chromosome 8 trisomy.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Main characteristics are a prominent forehead, ocular and breast hypertelorism, ocular, external ear and palate abnormalities, a short neck, heart defects, and developmental delay.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Patients with 46,XX,add(8)(p23).ish der(8)t(6;8)(GS-196I5+;RP-11338B22-) may present autoimmune type 1 diabetes mellitus.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Karyotyping is an essential tool for the diagnosis of chromosomal changes, but it has some limitations.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          Multiplex ligation-dependent probe amplification, array-single nucleotide polymorphism and fluorescence\n                          <jats:italic>in situ<\/jats:italic>\n                          hybridization can help diagnose genetic syndromes in patients with atypical evolution.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-20-0197","type":"journal-article","created":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T04:47:15Z","timestamp":1644468435000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":2,"title":["Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus"],"prefix":"10.1530","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5327-6009","authenticated-orcid":true,"given":"Vitor Scalone","family":"Netto","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Centro Universit\u00e1rio S\u00e3o Camilo, S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel","family":"Bellincanta","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Centro Universit\u00e1rio S\u00e3o Camilo, S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3355-0386","authenticated-orcid":true,"given":"Guido de Paula Colares","family":"Neto","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Centro Universit\u00e1rio S\u00e3o Camilo, S\u00e3o Paulo, Brasil"},{"name":"Department of Pediatric Endocrinology, Hospital Infantil Darcy Vargas, S\u00e3o Paulo, S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2323-3563","authenticated-orcid":true,"given":"Nara Michelle","family":"de Araujo Evangelista","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Hospital Infantil Darcy Vargas, S\u00e3o Paulo, S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1781-3214","authenticated-orcid":true,"given":"Carolina Costa","family":"Figueiredo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Hospital Infantil Darcy Vargas, S\u00e3o Paulo, S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5689-9049","authenticated-orcid":true,"given":"Patricia","family":"Salmona","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Hospital Infantil Darcy Vargas, S\u00e3o Paulo, S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8507-5236","authenticated-orcid":true,"given":"V\u00e2nia de F\u00e1tima","family":"Tonetto-Fernandes","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Centro Universit\u00e1rio S\u00e3o Camilo, S\u00e3o Paulo, Brasil"},{"name":"Department of Pediatric Endocrinology, Hospital Infantil Darcy Vargas, S\u00e3o Paulo, S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Journal of Applied Genetics","first-page":"115","article-title":"Trisomy 8 mosaicism syndrome","volume":"43","author":"Wi\u015bniewska","year":"2002","unstructured":"Wi\u015bniewska MMazurek M. Trisomy 8 mosaicism syndrome. Journal of Applied Genetics200243115\u2013118.(https:\/\/www.researchgate.net\/publication\/11290367_Trisomy_8_mosaicism_syndrome)"},{"key":"bib2","series-title":"Journal of Pediatric Genetics","first-page":"197","article-title":"Constitutional trisomy 8 mosaicism syndrome: case report and review","volume":"2","author":"Udayakumar","year":"2013","unstructured":"Udayakumar AMAl-Kindy A. Constitutional trisomy 8 mosaicism syndrome: case report and review. Journal of Pediatric Genetics20132197\u2013201. (https:\/\/doi.org\/10.3233\/PGE-13069)"},{"key":"bib3","series-title":"Smith\u2019s Recognizable Patterns of Human Malformation","first-page":"24","author":"Jones","year":"2013","unstructured":"Jones KLSmith\u2019s Recognizable Patterns of Human Malformation, 7th ed., pp. 24\u201328. Philadelphia: Saunders, 2013."},{"key":"bib4","series-title":"Cytogenetic and Genome Research","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1159\/000353846","article-title":"Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: a family case report and review of the literature","volume":"141","author":"Castiglione","year":"2013","unstructured":"Castiglione AGuaran VAstolfi LOrioli EZeri GGemmati DBovo RMontaldi AAlghisi AMartini A. Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: a family case report and review of the literature. 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