{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T02:33:00Z","timestamp":1783477980843,"version":"3.55.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:sec>\n<jats:title>Context<\/jats:title>\n<jats:p>Patients with tall stature often remain undiagnosed after clinical investigation and few studies have genetically assessed this group, most of them without a systematic approach.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Objective<\/jats:title>\n<jats:p>To assess prospectively a group of individuals with tall stature, with and without syndromic features, and to establish a molecular diagnosis for their growth disorder.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Design<\/jats:title>\n<jats:p>Screening by karyotype (<jats:italic>n<\/jats:italic>\u2009=\u200942), chromosome microarray analyses (CMA) (<jats:italic>n<\/jats:italic>\u2009=\u200916), MS-MLPA (<jats:italic>n<\/jats:italic>\u2009=\u20092) targeted panel (<jats:italic>n<\/jats:italic>\u2009=\u200912) and whole-exome sequencing (<jats:italic>n<\/jats:italic>\u2009=\u200931).<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Patients and methods<\/jats:title>\n<jats:p>We selected 42 patients with tall stature after exclusion of pathologies in GH\/IGF1 axis and divided them into syndromic (<jats:italic>n<\/jats:italic>\u2009=\u200930) and non-syndromic (<jats:italic>n<\/jats:italic>\u2009=\u200912) subgroups.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Main outcome measures<\/jats:title>\n<jats:p>Frequencies of pathogenic findings.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>We identified two patients with chromosomal abnormalities including <jats:italic>SHOX<\/jats:italic> trisomy by karyotype, one 9q22.3 microdeletion syndrome by CMA, two cases of Beckwith\u2013Wiedemann syndrome by targeted MS-MLPA analysis and nine cases with heterozygous pathogenic or likely pathogenic genetic variants by multigene analysis techniques (<jats:italic>FBN1<\/jats:italic>\u2009=\u20093, <jats:italic>NSD1<\/jats:italic>\u2009=\u20092, <jats:italic>NFIX<\/jats:italic>\u2009=\u20091, <jats:italic>SUZ12<\/jats:italic>\u2009=\u20091, <jats:italic>CHD8<\/jats:italic>\u2009=\u20091, <jats:italic>MC4R<\/jats:italic>\u2009=\u20091). Three of 20 patients analyzed by WES had their diagnosis established. Only one non-syndromic patient had a definitive diagnosis. The sequential genetic assessment diagnosed 14 out of 42 (33.3%) tall patients.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>A systematic molecular approach of patients with tall stature was able to identify the etiology in 13 out of 30 (43.3%) syndromic and 1 out of 12 (8.3%) non-syndromic patients, contributing to the genetic counseling and avoiding unfavorable outcomes in the syndromic subgroup.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-19-0785","type":"journal-article","created":{"date-parts":[[2019,11,19]],"date-time":"2019-11-19T16:18:18Z","timestamp":1574180298000},"page":"139-147","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":8,"title":["Genetic investigation of patients with tall stature"],"prefix":"10.1093","volume":"182","author":[{"given":"Edoarda","family":"Vasco de Albuquerque Albuquerque","sequence":"first","affiliation":[{"name":"1Unidade de Endocrinologia Gen\u00e9tica (LIM25), Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42), Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Ferreira de Assis Funari","sequence":"additional","affiliation":[{"name":"2Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42), Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elis\u00e2ngela","family":"Pereira de Souza Quedas","sequence":"additional","affiliation":[{"name":"1Unidade de Endocrinologia Gen\u00e9tica (LIM25), Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42), Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Sayuri Honjo Kawahira","sequence":"additional","affiliation":[{"name":"3Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Soares Jallad","sequence":"additional","affiliation":[{"name":"4Unidade de Neuroendocrinologia, Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tha\u00eds Kataoka","family":"Homma","sequence":"additional","affiliation":[{"name":"1Unidade de Endocrinologia Gen\u00e9tica (LIM25), Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42), Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina Matsunaga","family":"Martin","sequence":"additional","affiliation":[{"name":"2Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42), Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"},{"name":"5Unidade de Doen\u00e7as Osteometab\u00f3licas, Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vinicius Nahime","family":"Brito","sequence":"additional","affiliation":[{"name":"2Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42), Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexsandra Christianne","family":"Malaquias","sequence":"additional","affiliation":[{"name":"1Unidade de Endocrinologia Gen\u00e9tica (LIM25), Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42), Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"},{"name":"6Unidade de Endocrinologia Pedi\u00e1trica, Departamento de Pediatria, Irmandade da Santa Casa de Miseric\u00f3rdia de S\u00e3o Paulo, S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio Marcondes","family":"Lerario","sequence":"additional","affiliation":[{"name":"1Unidade de Endocrinologia Gen\u00e9tica (LIM25), Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular (LIM42), Hospital das Cl\u00ednicas da Faculdade de Medicina, Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"},{"name":"7Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"8Instituto de Bioci\u00eancias (IB), Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Cristina","family":"Victorino Krepischi","sequence":"additional","affiliation":[{"name":"8Instituto de Bioci\u00eancias (IB), Universidade de S\u00e3o Paulo (USP), S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong","family":"Ae Kim","sequence":"additional","affiliation":[{"name":"3Unidade de Gen\u00e9tica do Instituto da Crian\u00e7a, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo, S\u00e3o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo Jorge 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