Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/194026
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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleTrue Agonadism: Report Of A Case Analyzed With Y-specific Dna Probes.pt_BR
dc.contributor.authorMaciel-Guerra, A Tpt_BR
dc.contributor.authorFarah, S Bpt_BR
dc.contributor.authorGarmes, H Mpt_BR
dc.contributor.authorPinto Júnior, Wpt_BR
dc.contributor.authorBustorff da Silva, J Mpt_BR
dc.contributor.authorBaptista, M Tpt_BR
dc.contributor.authorMarques-de-Faria, A Ppt_BR
dc.contributor.authorGuerra Júnior, Gpt_BR
dc.contributor.authorde Mello, M Ppt_BR
unicamp.authorA T Maciel-Guerra, Departmento de Genética Médica, Universidade Estadual de Campinas, SP, Brazil.pt_BR
unicamp.author.externalS B Farah,pt
unicamp.author.externalH M Garmes,pt
unicamp.author.externalW Pinto Júnior,pt
unicamp.author.externalJ M Bustorff da Silva,pt
unicamp.author.externalM T Baptista,pt
unicamp.author.externalA P Marques-de-Faria,pt
unicamp.author.externalG Guerra Júnior,pt
unicamp.author.externalM P de Mello,pt
dc.subjectChild, Preschoolpt_BR
dc.subjectDna Probespt_BR
dc.subjectDisorders Of Sex Developmentpt_BR
dc.subjectGenitaliapt_BR
dc.subjectHumanspt_BR
dc.subjectMalept_BR
dc.subjectPhenotypept_BR
dc.subjectTestispt_BR
dc.subjectY Chromosomept_BR
dc.description.abstractWe report on a 5-year-old girl with a male karyotype (46,XY), severe psychomotor and physical retardation, minor anomalies, and female external genitalia with a blindly ending vagina. She has normal adrenal function, prepubertal serum gonadotropin and testosterone levels, which did not rise after hCG stimulation. On abdominal exploration no gonads were found, and only mesonephric and Müllerian remnants. She was HY positive, and no deletion was detected in the Y chromosome using 5 different probes. Although a genetic defect is not excluded, pregnancy complications suggest an environmental insult to the developing testes.en
dc.relation.ispartofAmerican Journal Of Medical Geneticspt_BR
dc.relation.ispartofabbreviationAm. J. Med. Genet.pt_BR
dc.date.issued1991-Decpt_BR
dc.identifier.citationAmerican Journal Of Medical Genetics. v. 41, n. 4, p. 444-5, 1991-Dec.pt_BR
dc.language.isoengpt_BR
dc.description.volume41pt_BR
dc.description.firstpage444-5pt_BR
dc.rightsfechadopt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn0148-7299pt_BR
dc.identifier.doi10.1002/ajmg.1320410412pt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/1776634pt_BR
dc.date.available2015-11-27T12:18:57Z-
dc.date.accessioned2015-11-27T12:18:57Z-
dc.description.provenanceMade available in DSpace on 2015-11-27T12:18:57Z (GMT). No. of bitstreams: 1 pmed_1776634.pdf: 225002 bytes, checksum: ec35763631a97ae6ca248fc55ed31ddb (MD5) Previous issue date: 1991en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/194026-
dc.identifier.idPubmed1776634pt_BR
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