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| Boy,Raquel; Pimentel,Márcia Mattos Gonçalves; Hemerly,Ana Paula; Silva,Maria do Perpétuo Socorro; Barreiro,Ana Paula; Almeida,José Carlos Cabral de; Llerena,Juan. |
| The authors report an additional case of partial monosomy of the long arm of chromosome 6 [46,XY,del (6)(q22 <font SIZE="3" face="Symbol">®</font> qter)]. Our patient has a large segment beyond 6q25 deleted, then severe psychomotor retardation is expected to occur. |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1998 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100024 |
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| Cardoso,Leila C.A.; Castaño,Jair A. Tenorio; Pereira,Hanna S.; Lima,Maria Angélica de F.D.; Santos,Anna Cláudia E. dos; Faria,Paulo S. de; Ferman,Sima; Seuánez,Héctor N.; Nevado,Julián B.; Almeida,José Carlos Cabral de; Lapunzina,Pablo; Vargas,Fernando R.. |
| The most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) and centromeric domain 2 (KvDMR) that contains the genes KCNQ1, KCNQ1OT1 and CDKN1C. In this work, we used pyrosequencing and MS-MLPA to compare the methylation patterns of DMRH19/KvDMR in blood and tumor samples from 40 WT patients. Normal constitutional KvDMR methylation indicated that most of the epigenetic alterations in WT occur at DMRH19. Constitutional DMRH19 hypermethylation (HM DMRH19) was observed in two patients with Beckwith-Wiedemann syndrome. Pyrosequencing and MS-MLPA showed HM DMRH19 in 28/34 tumor samples:... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Epigenetic; Histopathology; Methylation; MS-MLPA; Pyrosequencing. |
| Ano: 2012 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572012000500002 |
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