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	Provedor de dados BJMBR (3) Braz. J. Genet. (1) Genet. Mol. Biol. (1) Autor Pina-Neto,J.M. (5) Mazzucatto,L.F. (3) Peres,L.C. (2) Acosta,A.X. (1) Bisinella,R. (1) Carrara,R.C.V. (1) Ferreira,A.P.S. (1) Martins,M.D. (1) Mazzucato,L.F. (1) Ramos,E.S. (1) Ribeiro,C.N.M. (1) Rodríguez,V.R. (1) Sartoratto,E. (1) Yamasaki,R. (1) Mais... Palavra-chave 1p36 microdeletion syndrome (1) Autopsy (1) Chromosome aberrations (1) Congenital anomalies (1) Cytogenetics (1) DNA (1) Dysmorphic features (1) Karyotype (1) Male infertility (1) Monosomy 1p36 (1) Pigmentary dysplasia (1) Polymerase chain reaction (1) Prader-Willi syndrome (1) Prader-Willi-like phenotype (1) Psychomotor retardation (1) Scrape preparative (1) Skin fibroblasts (1) Touch preparative (1) Trisomy 13 mosaicism (1) Y microdeletions (1) Mais... Tipo do documento Info:eu-repo/semantics/article (4) Info:eu-repo/semantics/other (1) Ano 2008 (1) 2006 (1) 2004 (1) 1998 (1) 1996 (1) País Brazil (5) Idioma Inglês (5)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 5 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 Trisomy 13 mosaicism demonstrated only in skin fibroblasts in a patient presenting psychomotor retardation, pigmentary dysplasia and some dysmorphic features Braz. J. Genet. Ferreira,A.P.S.; Mazzucatto,L.F.; Ramos,E.S.; Pina-Neto,J.M.. A Brazilian female infant presented delayed psychomotor development, skin pigmentary dysplasia and some dysmorphic features. Chromosome analysis from peripheral blood culture was normal, but the karyotype from skin fibroblasts revealed mosaicism for trisomy 13. This case demonstrates the relevance of performing chromosomal analysis of skin fibroblasts in patients with mental retardation, associated with pigmentary dysplasia of the skin and a normal karyotype in peripheral blood lymphocytes. To our knowledge, it is the first report of trisomy 13 demonstrated only in skin fibroblasts. Tipo: Info:eu-repo/semantics/article Palavras-chave: Trisomy 13 mosaicism; Skin fibroblasts; Psychomotor retardation; Pigmentary dysplasia; Dysmorphic features. Ano: 1996 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551996000400023 Somatic cytogenetic and azoospermia factor gene microdeletion studies in infertile men BJMBR Pina-Neto,J.M.; Carrara,R.C.V.; Bisinella,R.; Mazzucatto,L.F.; Martins,M.D.; Sartoratto,E.; Yamasaki,R.. The objective of the present study was to determine the frequency of somatic chromosomal anomalies and Y chromosomal microdeletions (azoospermia factor genes, AZF) in infertile males who seek assisted reproduction. These studies are very important because the assisted reproduction techniques (mainly intracytoplasmic sperm injection) bypass the natural selection process and some classical chromosomal abnormalities, microdeletions of AZF genes or some deleterious genic mutations could pass through generations. These genetic abnormalities can cause in the offspring of these patients male infertility, ambiguous external genitalia, mental retardation, and other birth defects. We studied 165 infertile men whose infertility was attributable to testicular problems... Tipo: Info:eu-repo/semantics/article Palavras-chave: Cytogenetics; Y microdeletions; Male infertility; Karyotype; Chromosome aberrations. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006000400017 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 Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype BJMBR Rodríguez,V.R.; Mazzucato,L.F.; Pina-Neto,J.M.. Monosomy 1p36 is the most common subtelomeric microdeletion syndrome with an incidence rate estimated to be 1 in 5000 births. A hypothesis of a similarity between patients with 1p36 deletion and those with Prader-Willi syndrome and the existence of two different phenotypes for 1p36 microdeletion has been suggested. The main objective of the present study was to determine the existence of 1p36 microdeletion in a sample of patients with mental retardation, obesity and hyperphagia who tested negative by the methylation test for Prader-Willi syndrome. Sixteen patients (7 females, 9 males), 16-26 years old, were evaluated with high-resolution cytogenetic analysis at 550-850 band levels and with 11 polymorphic microsatellite markers located in the 1p36 region.... Tipo: Info:eu-repo/semantics/other Palavras-chave: Monosomy 1p36; 1p36 microdeletion syndrome; Prader-Willi syndrome; Prader-Willi-like phenotype. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000800007 Registros recuperados: 5 Primeira ... 1 ... Última

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