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Kessler,Rejane G.; Sanseverino,Maria Teresa V.; Leistner-Segal,Sandra; Magalhães,José A.A.; Giugliani,Roberto. |
The study of the fetal karyotype became an important tool for the fetal diagnosis of genetic diseases in the 1970s. Although application of this test has remained very restricted in Brazil, we had 905 referrals for prenatal fetal karyotyping between 1989 and 2007. In 879 cases, a fetal karyotype was obtained. We detected 74 abnormal karyotypes (8.4%), the majority being found when the prior indication was fetal malformation. When obtaining amniotic fluid or chorionic villus samples was difficult, alternative fetal materials (urine, cystic hygroma, cystic lung, intreperitoneal and cerebrospinal fluids) were collected and we had success in obtaining karyotypes in all 13 cases. Although, the option of terminating abnormal pregnancies does not legally exist in... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Prenatal diagnosis; Chromosomal abnormalities; Fetal malformations. |
Ano: 2008 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500004 |
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Klingelfus,Tatiane; Costa,Paula Moiana da; Scherer,Marcos; Cestari,Marta Margarete. |
Abstract Even though aluminum is the third most common element present in the earth's crust, information regarding its toxicity remains scarce. It is known that in certain cases, aluminum is neurotoxic, but its effect in other tissues is unknown. The aim of this work was to analyze the genotoxic potential of aluminum sulfate in kidney tissue of the fish Rhamdia quelen after trophic contamination for 60 days. Sixty four fish were subdivided into the following groups: negative control, 5 mg, 50 mg and 500 mg of aluminum sulfate per kg of fish. Samples of the posterior kidney were taken and prepared to obtain mitotic metaphase, as well as the comet assay. The three types of chromosomal abnormalities (CA) found were categorized as chromatid breaks,... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Fish; Metal contamination; Chromosomal abnormalities; Comet assay. |
Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000400499 |
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Kalkanli,S; Simsek,S; Balkan,M; Akbas,H; Isi,H; Oral,D; Turkyilmaz,A; Fidanboy,M; Deveci,E; Baran,O; Kalkanli,N; Alp,M. N; Budak,T. |
Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome,... |
Tipo: Journal article |
Palavras-chave: Down syndrome; Buccal mucosa; Southeast Turkey; Chromosomal abnormalities; Genetic counseling. |
Ano: 2013 |
URL: http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0717-95022013000200053 |
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WANDSCHEER,ALANA C.D.; MARCHESAN,ENIO; TEDESCO,SOLANGE B.; FRESCURA,VIVIANE DAL-SOUTO; SOARES,CAMILLE F.; LONDERO,GUILHERME P.; TELÓ,GUSTAVO M.; HANSEL,DÂMARIS S.S.. |
ABSTRACT Tricyclazole is currently one of the fungicides recommended for the treatment of diseases in irrigated rice. However, there is relatively little information on its cytotoxic and genotoxic potential. The objective of this study was to evaluate the cytotoxicity and genotoxicity of rice crop water after apllication of the tricyclazole fungicide through the Allium cepa L. test. The rice crop water samplings were collected before and 1, 15 and 30 days after application of the fungicide in rice plant shoots. The Allium cepa roots were placed in contact with the rice crop water to check for possible chromosomal abnormalities and mitotic index of the bioindicators meristematic cells. The data obtained by the Allium cepa test indicates that the application... |
Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Bioindicator; Chromosomal abnormalities; Mitotic index; Pesticide; Irrigated rice. |
Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0001-37652017000301251 |
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Ribeiro,H.F.; Alcântara,D.F.A.; Matos,L.A.; Sousa,J.M.C.; Leal,M.F.; Smith,M.A.C.; Burbano,R.R.; Bahia,M.O.. |
Gastric cancer is the fourth most frequent type of cancer and the second cause of cancer mortality worldwide. The genetic alterations described so far for gastric carcinomas include amplifications and mutations of the c-ERBB2, KRAS, MET, TP53, and c-MYC genes. Chromosomal instability described for gastric cancer includes gains and losses of whole chromosomes or parts of them and these events might lead to oncogene overexpression, showing the need for a better understanding of the cytogenetic aspects of this neoplasia. Very few gastric carcinoma cell lines have been isolated. The establishment and characterization of the biological properties of gastric cancer cell lines is a powerful tool to gather information about the evolution of this malignancy, and... |
Tipo: Info:eu-repo/semantics/other |
Palavras-chave: Carcinogenesis; Chromosomal abnormalities; Gastric cancer; Oncogenes. |
Ano: 2010 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000800004 |
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