Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/193617
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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeArtigo de periódicopt_BR
dc.titleA Case Of De Novo I(12p) With 12q Whole-arm Translocation Mosaicism.pt_BR
dc.contributor.authorMarques-de-Faria, A Ppt_BR
dc.contributor.authorHackel, Cpt_BR
unicamp.authorA P Marques-de-Faria, Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Brazil.pt_BR
unicamp.author.externalC Hackel,pt
dc.subjectChild, Preschoolpt_BR
dc.subjectChromosome Aberrationspt_BR
dc.subjectChromosome Bandingpt_BR
dc.subjectChromosomes, Human, Pair 11pt_BR
dc.subjectChromosomes, Human, Pair 12pt_BR
dc.subjectChromosomes, Human, Pair 7pt_BR
dc.subjectElectrophoresis, Polyacrylamide Gelpt_BR
dc.subjectFemalept_BR
dc.subjectHumanspt_BR
dc.subjectInfantpt_BR
dc.subjectIsoenzymespt_BR
dc.subjectKaryotypingpt_BR
dc.subjectL-lactate Dehydrogenasept_BR
dc.subjectMosaicismpt_BR
dc.subjectTranslocation, Geneticpt_BR
dc.description.abstractWe report a dup(12p) due to a de novo i(12p) in a girl with mosaicism for 12q whole-arm translocations onto 7p, 7q, and 11q terminal regions. The dup(12p) syndrome was confirmed by clinical, cytogenetic, and LDH-dosage studies.en
dc.relation.ispartofAmerican Journal Of Medical Geneticspt_BR
dc.relation.ispartofabbreviationAm. J. Med. Genet.pt_BR
dc.date.issued1989-Augpt_BR
dc.identifier.citationAmerican Journal Of Medical Genetics. v. 33, n. 4, p. 453-6, 1989-Aug.pt_BR
dc.language.isoengpt_BR
dc.description.volume33pt_BR
dc.description.firstpage453-6pt_BR
dc.rightsfechadopt_BR
dc.rights.holderpt_BR
dc.sourcePubMedpt_BR
dc.identifier.issn0148-7299pt_BR
dc.identifier.doi10.1002/ajmg.1320330407pt_BR
dc.identifier.urlhttp://www.ncbi.nlm.nih.gov/pubmed/2596503pt_BR
dc.date.available2015-11-27T12:10:05Z-
dc.date.accessioned2015-11-27T12:10:05Z-
dc.description.provenanceMade available in DSpace on 2015-11-27T12:10:05Z (GMT). No. of bitstreams: 1 pmed_2596503.pdf: 457879 bytes, checksum: 757b22df2f16b51a86a8efd70f622663 (MD5) Previous issue date: 1989en
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/193617-
dc.identifier.idPubmed2596503pt_BR
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