A Case Of De Novo I(12p) With 12q Whole-arm Translocation Mosaicism.

dc.creatorMarques-de-Faria, A P
dc.creatorHackel, C
dc.date1989-Aug
dc.date2015-11-27T12:10:05Z
dc.date2015-11-27T12:10:05Z
dc.date.accessioned2018-03-29T00:50:37Z
dc.date.available2018-03-29T00:50:37Z
dc.identifierAmerican Journal Of Medical Genetics. v. 33, n. 4, p. 453-6, 1989-Aug.
dc.identifier0148-7299
dc.identifier10.1002/ajmg.1320330407
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/2596503
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/193617
dc.identifier2596503
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1293850
dc.descriptionWe 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.
dc.description33
dc.description453-6
dc.languageeng
dc.relationAmerican Journal Of Medical Genetics
dc.relationAm. J. Med. Genet.
dc.rightsfechado
dc.rights
dc.sourcePubMed
dc.subjectChild, Preschool
dc.subjectChromosome Aberrations
dc.subjectChromosome Banding
dc.subjectChromosomes, Human, Pair 11
dc.subjectChromosomes, Human, Pair 12
dc.subjectChromosomes, Human, Pair 7
dc.subjectElectrophoresis, Polyacrylamide Gel
dc.subjectFemale
dc.subjectHumans
dc.subjectInfant
dc.subjectIsoenzymes
dc.subjectKaryotyping
dc.subjectL-lactate Dehydrogenase
dc.subjectMosaicism
dc.subjectTranslocation, Genetic
dc.titleA Case Of De Novo I(12p) With 12q Whole-arm Translocation Mosaicism.
dc.typeArtículos de revistas


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