{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T08:39:34Z","timestamp":1765355974662},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,11,14]],"date-time":"2015-11-14T00:00:00Z","timestamp":1447459200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"S\u00e3o Paulo Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:sec><jats:label \/><jats:p>Approximately a hundred patients with terminal 10q deletions have been described. They present with a wide range of clinical features always accompanied by delayed development, intellectual disability and craniofacial dysmorphisms. Here, we report a girl and a boy with craniosynostosis, developmental delay and other congenital anomalies. Karyotyping and molecular analysis including Multiplex Ligation dependent probe amplification (MLPA) and Array Comparative Genomic Hybridization (aCGH) were performed in both patients. We detected a 13.1\u2009Mb pure deletion at 10q26.12\u2010q26.3 in the girl and a 10.9\u2009Mb pure deletion at 10q26.13\u2010q26.3 in the boy, both encompassing about 100 genes. The clinical and molecular findings in these patients reinforce the importance of the <jats:italic>DOCK<\/jats:italic>1 smallest region of overlap I (SRO I), previously suggested to explain the clinical signs, and together with a review of the literature suggest a second 3.5\u2009Mb region important for the phenotype (SRO II). Genotype\u2010phenotype correlations and literature data suggest that the craniosynostosis is not directly related to dysregulated signaling in suture development, but may be secondary to alterations in brain development instead. Further, genes at 10q26 may be involved in the molecular crosstalk between brain and cranial vault. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37448","type":"journal-article","created":{"date-parts":[[2015,11,14]],"date-time":"2015-11-14T07:16:59Z","timestamp":1447485419000},"page":"403-409","source":"Crossref","is-referenced-by-count":11,"title":["Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology?"],"prefix":"10.1002","volume":"170","author":[{"given":"\u00c1gatha Cristhina","family":"Faria","sequence":"first","affiliation":[{"name":"Programa de Gradua\u00e7\u00e3o em Biotecnologia, Centro de Ci\u00eancias da Sa\u00fade Universidade Federal do Esp\u00edrito Santo (UFES) Vit\u00f3ria Esp\u00edrito Santo Brasil"},{"name":"Laborat\u00f3rio de Gen\u00e9tica Humana e Molecular, Centro de Pesquisa ICALP Escola Superior de Ci\u00eancias da Santa Casa de Miseric\u00f3rdia (EMESCAM) Vit\u00f3ria Esp\u00edrito Santo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliete","family":"Rabbi\u2010Bortolini","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gen\u00e9tica e Biologia Molecular Associa\u00e7\u00e3o Educacional de Vit\u00f3ria Vit\u00f3ria Esp\u00edrito Santo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria R. G. O.","family":"Rebou\u00e7as","sequence":"additional","affiliation":[{"name":"Divis\u00e3o de Gen\u00e9tica Cl\u00ednica Hospital Estadual Infantil Nossa Senhora da Gl\u00f3ria (HEINSG) Vit\u00f3ria Esp\u00edrito Santo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9ia L. A.","family":"de S. Thiago Pereira","sequence":"additional","affiliation":[{"name":"Unidade de Neonatologia Hospital Santa Casa de Miseric\u00f3rdia Vit\u00f3ria Esp\u00edrito Santo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena G. Tonini","family":"Frasson","sequence":"additional","affiliation":[{"name":"Unidade de Neonatologia Hospital Santa Casa de Miseric\u00f3rdia Vit\u00f3ria Esp\u00edrito Santo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo","family":"Atique","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas Sobre o Genoma Humano e C\u00e9lulas Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva Instituto De Bioci\u00eancias, Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo S\u00e3o Paulo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naila Cristina V.","family":"Louren\u00e7o","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas Sobre o Genoma Humano e C\u00e9lulas Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva Instituto De Bioci\u00eancias, Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo S\u00e3o Paulo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas Sobre o Genoma Humano e C\u00e9lulas Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva Instituto De Bioci\u00eancias, Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo S\u00e3o Paulo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerson S.","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas Sobre o Genoma Humano e C\u00e9lulas Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva Instituto De Bioci\u00eancias, Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo S\u00e3o Paulo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Rita","family":"Passos\u2010Bueno","sequence":"additional","affiliation":[{"name":"Centro de Pesquisas Sobre o Genoma Humano e C\u00e9lulas Tronco, Departamento de Gen\u00e9tica e Biologia Evolutiva Instituto De Bioci\u00eancias, Universidade de S\u00e3o Paulo (USP) S\u00e3o Paulo S\u00e3o Paulo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fl\u00e1via Imbroisi Valle","family":"Errera","sequence":"additional","affiliation":[{"name":"Programa de Gradua\u00e7\u00e3o em Biotecnologia, Centro de Ci\u00eancias da Sa\u00fade Universidade Federal do Esp\u00edrito Santo (UFES) Vit\u00f3ria Esp\u00edrito Santo Brasil"},{"name":"Laborat\u00f3rio de Gen\u00e9tica Humana e Molecular, Centro de Pesquisa ICALP Escola Superior de Ci\u00eancias da Santa Casa de Miseric\u00f3rdia (EMESCAM) Vit\u00f3ria Esp\u00edrito Santo Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,11,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1966.tb15225.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijbs.2929"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2012.02.034"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E03-04-0207"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1293512"},{"key":"e_1_2_7_7_1","first-page":"1","article-title":"10q26. 1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies","volume":"9999","author":"Choucair N","year":"2015","journal-title":"Am J Med Genet A"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31053"},{"key":"e_1_2_7_9_1","first-page":"507","article-title":"Perspectives on craniosynostosis","volume":"132","author":"Cohen MM","year":"1980","journal-title":"West J Med"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-7580.2010.01258.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/505832"},{"key":"e_1_2_7_12_1","first-page":"315","article-title":"Craniosynostosis secondary to ventriculoatrial shunt","volume":"116","author":"Kloss JL","year":"1968","journal-title":"Am J Dis Child"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32705"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(60)90138-5"},{"key":"e_1_2_7_15_1","first-page":"107","volume-title":"Development, diseases and treatment. 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