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| Registros recuperados: 87 | |
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| Santos,M.F.M.; Oliveira,F.C.A.C.; Kishimoto,R.K.; Borri,D.; Santos,F.P.S.; Campregher,P.V.; Silveira,P.A.A.; Hamerschlak,N.; Mangueira,C.L.P.; Duarte,F.B.; Crepaldi,A.H.; Salvino,M.A.; Velloso,E.D.R.P.. |
| Cytogenetics is essential in myeloid neoplasms (MN) and pre-analytical variables are important for karyotyping. We assessed the relationship between pre-analytical variables (time from collection to sample processing, material type, sample cellularity, and diagnosis) and failures of karyotyping. Bone marrow (BM, n=352) and peripheral blood (PB, n=69) samples were analyzed from acute myeloid leukemia (n=113), myelodysplastic syndromes (n=73), myelodysplastic syndromes/myeloproliferative neoplasms (n=17), myeloproliferative neoplasms (n=137), and other with conclusive diagnosis (n=6), and reactive disorders/no conclusive diagnosis (n=75). The rate of unsuccessful karyotyping was 18.5% and was associated with the use of PB and a low number of nucleated cells... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Cytogenetics; Karyotype; Leukemia; Myelodysplasia; Myeloproliferative disease. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019000200608 |
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| Ribeiro,E.M.S.F.; Rodriguez,J.M.; Cóser,V.M.; Sotero,M.G.; Fonseca Neto,J.M.; Pasquini,R.; Cavalli,I.J.. |
| Microsatellites are short tandem repeat sequences dispersed throughout the genome. Their instability at multiple genetic loci may result from mismatch repair errors and it occurs in hereditary nonpolyposis colorectal cancer. This instability is also found in many sporadic cancers. In order to evaluate the importance of this process in myeloid leukemias, we studied five loci in different chromosomes of 43 patients, 22 with chronic myelocytic leukemia (CML) in the chronic phase, 7 with CML in blast crisis, and 14 with acute myeloid leukemia (AML), by comparing leukemic DNA extracted from bone marrow and constitutional DNA obtained from buccal epithelial cells. Only one of the 43 patients (2.1%), with relapsed AML, showed an alteration in the allele length at... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Genomic instability; Mismatch repair errors; Cytogenetics; Leukemogenesis. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002000200003 |
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| 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 |
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| Velloso,E.D.R.P.; Chauffaille,M.L.; Peliçario,L.M.; Tanizawa,R.S.S.; Toledo,S.R.C.; Gaiolla,R.D.; Lopes,L.F.. |
| Myelodysplastic syndromes (MDS) and juvenile myelomonocytic leukemia (JMML) are rare hematopoietic stem cell diseases affecting children. Cytogenetics plays an important role in the diagnosis of these diseases. We report here the experience of the Cytogenetic Subcommittee of the Brazilian Cooperative Group on Pediatric Myelodysplastic Syndromes (BCG-MDS-PED). We analyzed 168 cytogenetic studies performed in 23 different cytogenetic centers; 84 of these studies were performed in patients with confirmed MDS (primary MDS, secondary MDS, JMML, and acute myeloid leukemia/MDS+Down syndrome). Clonal abnormalities were found in 36.9% of the MDS cases and cytogenetic studies were important for the detection of constitutional diseases and for differential diagnosis... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Childhood myelodysplastic syndromes; Juvenile myelomonocytic leukemia; Cytogenetics; Karyotype; Diagnosis. |
| Ano: 2013 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2013000100085 |
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| Registros recuperados: 87 | |
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