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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleTwo Cases Of Y; Autosome Translocations: A 45,x Male And A Clinically Trisomy 18 Patient.pt_BR
dc.contributor.authorFarah, S Bpt_BR
dc.contributor.authorRamos, C Fpt_BR
dc.contributor.authorde Mello, M Ppt_BR
dc.contributor.authorSartorato, E Lpt_BR
dc.contributor.authorHorelli-Kuitunen, Npt_BR
dc.contributor.authorLopes, V Lpt_BR
dc.contributor.authorCavalcanti, D Ppt_BR
dc.contributor.authorHackel, Cpt_BR
unicamp.authorS B Farah, Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas, Brazil.pt_BR
unicamp.author.externalC F Ramos,pt
unicamp.author.externalM P de Mello,pt
unicamp.author.externalE L Sartorato,pt
unicamp.author.externalN Horelli-Kuitunen,pt
unicamp.author.externalV L Lopes,pt
unicamp.author.externalD P Cavalcanti,pt
unicamp.author.externalC Hackel,pt
dc.subjectBase Sequencept_BR
dc.subjectCells, Culturedpt_BR
dc.subjectChildpt_BR
dc.subjectChromosome Bandingpt_BR
dc.subjectChromosomes, Human, Pair 15pt_BR
dc.subjectChromosomes, Human, Pair 18pt_BR
dc.subjectDna Primerspt_BR
dc.subjectHumanspt_BR
dc.subjectIn Situ Hybridizationpt_BR
dc.subjectInfantpt_BR
dc.subjectInfant, Newbornpt_BR
dc.subjectKaryotypingpt_BR
dc.subjectMalept_BR
dc.subjectMolecular Sequence Datapt_BR
dc.subjectTranslocation, Geneticpt_BR
dc.subjectTrisomypt_BR
dc.subjectY Chromosomept_BR
dc.description.abstractWe report on 2 cases of Y; autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y-chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time.en
dc.relation.ispartofAmerican Journal Of Medical Geneticspt_BR
dc.relation.ispartofabbreviationAm. J. Med. Genet.pt_BR
dc.date.issued1994-Febpt_BR
dc.identifier.citationAmerican Journal Of Medical Genetics. v. 49, n. 4, p. 388-92, 1994-Feb.pt_BR
dc.language.isoengpt_BR
dc.description.volume49pt_BR
dc.description.firstpage388-92pt_BR
dc.rightsfechadopt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn0148-7299pt_BR
dc.identifier.doi10.1002/ajmg.1320490407pt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/8160730pt_BR
dc.date.available2015-11-27T12:18:30Z-
dc.date.accessioned2015-11-27T12:18:30Z-
dc.description.provenanceMade available in DSpace on 2015-11-27T12:18:30Z (GMT). No. of bitstreams: 1 pmed_8160730.pdf: 558832 bytes, checksum: 52f6142070ec9ae9d7db29139a143b09 (MD5) Previous issue date: 1994en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/193788-
dc.identifier.idPubmed8160730pt_BR
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