{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T15:31:25Z","timestamp":1648827085920},"reference-count":23,"publisher":"FapUNIFESP (SciELO)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2014,6]]},"abstract":"<jats:p> Objetivo: Verificar se a hibridiza\u00e7\u00e3o in situ por fluoresc\u00eancia (FISH) em c\u00e9lulas de mucosa oral poderia ser empregada para detectar criptomosaicismo com linhagem 45,X em pacientes 46,XY.   Sujeitos e m\u00e9todos: Amostra de 19 jovens saud\u00e1veis 46,XY e cinco pacientes com dist\u00farbios da diferencia\u00e7\u00e3o do sexo (DDS), quatro 45,X\/46,XY e um 46,XY. FISH com sondas espec\u00edficas para X e Y em n\u00facleos interf\u00e1sicos de linf\u00f3citos e mucosa oral para investigar a propor\u00e7\u00e3o de n\u00facleos contendo apenas o sinal do cromossomo X.   Resultados: A frequ\u00eancia de n\u00facleos contendo apenas o sinal do X nos dois tecidos dos homens saud\u00e1veis n\u00e3o diferiu (p = 0,69). Em todos os pacientes com DDS essa frequ\u00eancia foi significativamente maior, e tamb\u00e9m n\u00e3o houve diferen\u00e7a entre os dois tecidos (p = 0,38).   Conclus\u00f5es: A investiga\u00e7\u00e3o de mosaicismo com linhagem 45,X em pacientes com DDS 46,XY ou esterilidade pode ser feita por FISH diretamente em c\u00e9lulas de mucosa oral.<\/jats:p>","DOI":"10.1590\/0004-2730000002853","type":"journal-article","created":{"date-parts":[[2014,6,17]],"date-time":"2014-06-17T00:26:57Z","timestamp":1402964817000},"page":"328-334","source":"Crossref","is-referenced-by-count":1,"title":["Uso da FISH em mucosa oral para investiga\u00e7\u00e3o de mosaicismo com linhagem 45,X: estudo com homens saud\u00e1veis e pacientes com dist\u00farbios da diferencia\u00e7\u00e3o do sexo"],"prefix":"10.1590","volume":"58","author":[{"given":"Juliana de","family":"Paulo","sequence":"first","affiliation":[{"name":"Universidade Estadual de Campinas,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliana Gabriel Ribeiro de","family":"Andrade","sequence":"additional","affiliation":[{"name":"Unicamp,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Paula dos","family":"Santos","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera L\u00facia","family":"Gil-da-Silva-Lopes","sequence":"additional","affiliation":[{"name":"Unicamp,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gil","family":"Guerra-J\u00fanior","sequence":"additional","affiliation":[{"name":"Unicamp,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9a Trevas","family":"Maciel-Guerra","sequence":"additional","affiliation":[{"name":"Unicamp,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","series-title":"Thompson & Thompson Gen\u00e9tica M\u00e9dica","first-page":"61","volume-title":"Princ\u00edpios de citogen\u00e9tica cl\u00ednica","author":"Nussbaum RL","year":"2008","edition":"7\u00aa"},{"issue":"15","key":"ref2","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1002\/ajmg.a.31740","article-title":"Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics","volume":"143A","author":"Cheung SW","year":"2007","journal-title":"Am J Med Genet A"},{"key":"ref3","series-title":"Thompson & Thompson Gen\u00e9tica M\u00e9dica","first-page":"89","volume-title":"Dist\u00farbios dos autossomos e dos cromossomos sexuais","author":"Nussbaum RL","year":"2008","edition":"7\u00aa"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1002\/ajmg.a.30954","article-title":"Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients","volume":"138A","author":"Wiktor AE","year":"2005","journal-title":"Am J Med Genet A"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1210\/jc.2006-1374","article-title":"Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group","volume":"92","author":"Bondy CA","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"ref6","first-page":"156","article-title":"The phenotype of 45,X\/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases","volume":"46","author":"Chang HJ","year":"1990","journal-title":"Am J Hum Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1542\/peds.104.2.304","article-title":"45,X\/46,XY mosaicism: report of 27 cases","volume":"104","author":"Telvi L","year":"1999","journal-title":"Pediatrics"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1159\/000015064","article-title":"Pathogenetics of 45,X\/46,XY gonadal mosaicism","volume":"82","author":"Reddy KS","year":"1998","journal-title":"Cytogenet Cell Genet"},{"key":"ref9","first-page":"1143","article-title":"Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei","volume":"57","author":"Guttenbach M","year":"1995","journal-title":"Am J Hum Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/gcc.2870080306","article-title":"Y chromosome loss in esophageal carcinoma: an in situ hybridization study","volume":"8","author":"Hunter S","year":"1993","journal-title":"Genes Chromosomes Cancer"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1590\/S0100-879X2005000100004","article-title":"Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis","volume":"38","author":"Tagliarini EB","year":"2005","journal-title":"Br J Med Biol Res"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1159\/000152036","article-title":"Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development","volume":"2","author":"Lin L","year":"2008","journal-title":"Sex Dev"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1053\/beha.2001.0159","article-title":"Molecular cytogenetics","volume":"14","author":"Kearney L","year":"2001","journal-title":"Best Pract Res Clin Haematol"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"3450","DOI":"10.1093\/humrep\/der310","article-title":"OCT4 immunohistochemistry may be necessary to identify the real risk of gonadal tumors in patients with Turner syndrome and Y chromosome sequences","volume":"26","author":"Barros BA","year":"2011","journal-title":"Hum Reprod"},{"key":"ref15","first-page":"94","article-title":"Exclusion of chromosome mosaicism: tables of 90 percent, 95 percent and 99 percent confidence limits and comments on use","volume":"29","author":"Hook EB","year":"1977","journal-title":"Am J Hum Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1034\/j.1399-0004.1999.560108.x","article-title":"High frequency of tissue-specific mosaicism in Turner syndrome patients","volume":"56","author":"Nazarenko SA","year":"1999","journal-title":"Clin Genet"},{"key":"ref17","first-page":"6","article-title":"An improved method for chromosome enumeration using fluorescent in situ hybridization of buccal epithelium","volume":"24","author":"Romczak EZ","year":"1998","journal-title":"J Ass Genet Tech"},{"issue":"8","key":"ref18","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1590\/S0004-27302012000800014","article-title":"The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: a propos of three cases of sex chromosome anomalies","volume":"56","author":"Maciel-Guerra AT","year":"2012","journal-title":"Arq Bras Endocrinol Metab"},{"key":"ref19","first-page":"488","article-title":"International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology. Consensus statement on management of intersex disorders. International Consensus Conference on Intersex","volume":"118","author":"Lee PA","year":"2006","journal-title":"Pediatrics"},{"key":"ref20","first-page":"S184","article-title":"The role of the pediatrician in the management of children with genital ambiguity","volume":"83","author":"Guerra G","year":"2007","journal-title":"J Pediatr (Rio J)"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1210\/jc.2009-1925","article-title":"Clinical Review#: state of the art for genetic testing of infertile men","volume":"95","author":"McLachlan RI","year":"2010","journal-title":"J Clin Endocrinol Metab"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/(SICI)1096-8628(19961211)66:2<187::AID-AJMG12>3.0.CO;2-P","article-title":"Application of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis","volume":"66","author":"Schad CR","year":"1996","journal-title":"Am J Med Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"E1540","DOI":"10.1210\/jc.2012-1388","article-title":"45,X\/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function ? a retrospective longitudinal study","volume":"97","author":"Johansen ML","year":"2012","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Arquivos Brasileiros de Endocrinologia &amp; Metabologia"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/abem\/v58n4\/0004-2730-abem-58-4-0328.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,27]],"date-time":"2017-05-27T19:54:44Z","timestamp":1495914884000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-27302014000400328&lng=pt&tlng=pt"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["S0004-27302014000400328"],"URL":"https:\/\/doi.org\/10.1590\/0004-2730000002853","relation":{},"ISSN":["0004-2730"],"issn-type":[{"value":"0004-2730","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6]]}}}