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	Provedor de dados BJMBR (1) Genet. Mol. Biol. (1) Autor Peres,L.C. (2) Pina-Neto,J.M. (2) Acosta,A.X. (1) Mazzucatto,L.F. (1) Ribeiro,C.N.M. (1) Palavra-chave Autopsy (1) Congenital anomalies (1) DNA (1) Polymerase chain reaction (1) Scrape preparative (1) Touch preparative (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2004 (1) 1998 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última A viable fetus presenting 68,XX[73]/69,XXX[27] triploid mosaicism Genet. Mol. Biol. Acosta,A.X.; Peres,L.C.; Mazzucatto,L.F.; Pina-Neto,J.M.. Triploidy is common in human pregnancies. It is detected in 1 to 2% of clinically recognized pregnancies and in approximately 15 to 20% of spontaneous abortions produced by chromosome anomalies. We report a premature liveborn girl (30 weeks of gestation) with microcephaly, facial dysmorphism and skeletal abnormalities who died at one day of age due to respiratory failure. The placenta showed partial hydatiform mole. Autopsy revealed no internal malformations. Cytogenetic analysis of 100 metaphases obtained from renal tissue culture revealed a 68,XX[73]/69,XXX[27] karyotype. To our knowledge this is the first report in the literature of 68,XX[73]/69,XXX[27] mosaicism in a liveborn infant. Tipo: Info:eu-repo/semantics/article Ano: 1998 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000300002 DNA extraction and quantification from touch and scrape preparations obtained from autopsy liver cells BJMBR Ribeiro,C.N.M.; Peres,L.C.; Pina-Neto,J.M.. The objective of the present study was to develop a simplified low cost method for the collection and fixation of pediatric autopsy cells and to determine the quantitative and qualitative adequacy of extracted DNA. Touch and scrape preparations of pediatric liver cells were obtained from 15 cadavers at autopsy and fixed in 95% ethanol or 3:1 methanol:acetic acid. Material prepared by each fixation procedure was submitted to DNA extraction with the Wizard® genomic DNA purification kit for DNA quantification and five of the preparations were amplified by multiplex PCR (azoospermia factor genes). The amount of DNA extracted varied from 20 to 8,640 µg, with significant differences between fixation methods. Scrape preparation fixed in 95% ethanol provided... Tipo: Info:eu-repo/semantics/article Palavras-chave: Autopsy; Congenital anomalies; DNA; Touch preparative; Scrape preparative; Polymerase chain reaction. Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000500002 Registros recuperados: 2 Primeira ... 1 ... Última

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