| Author | Camilo, Maria Jesus E. | |
| Author | Mulatinho, Milene V. | |
| Author | Ramos, Hilda | |
| Author | Almeida, José Carlos C. | |
| Author | Llerena Junior, Juan Clinton | |
| Author | Seuánez, Héctor N. | |
| Author | Vargas, Fernando R. | |
| Author | Cardoso, Leila C. A. | |
| Author | Moraes, Lúcia | |
| Access date | 2013-03-18T18:15:20Z | |
| Available date | 2013-03-18T18:15:20Z | |
| Document date | 2009 | |
| Citation | CARDOSO, Leila C. A. et al. Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 2. Eur. j. med. genet., Paris, v. 51, n. 6, p. 588-597, dec. 2008. | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/6388 | |
| Sponsorship | INCA, FIOCRUZ, CAPES | pt_BR |
| Language | eng | pt_BR |
| Publisher | Elsevier | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | R.C. Allen, H.Y. Zoghbi, A.B. Moseley, H.M. Rosenblatt, J.W. Belmont, Methylation of HpaII and HhaI sites near
the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation,
Am. J. Hum. Genet. 51 (1992) 1229e1239. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | I. Boutin-Ganache, M. Raposo, M. Raymond, C.F. Deschepper, M13-tailed primers improve the readability and
usability of microsatellite analyses performed with two different allele-sizing methods, Biotechniques 31 (2001)
24e26 28. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | Z. Chettouh, M.-F. Croquette, B. Delobel, S. Gilgenkrants, C. Leonard, C. Maunoury, M. Prieur, M.-O. Rethore´,
P.-M. Sinet, M. Chery, J.-M. Delabar, Molecular mapping of 21 features associated with partial monosomy 21:
involvement of the APP-SODI region, Am. J. Hum. Genet. 57 (1995) 62e71. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | J. Couturier, B. Dutrillaux, P. Garber, O. Raoul, M.F. Croquette, J.C. Fourlinnie, E. Maillard, Evidence for
a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21), Hum.
Genet. 49 (1979) 319e326. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | E. Delabesse, S. Aral, P. Kamoun, B. Varet, A.G. Turhan, Quantitative non-radioactive clonality analysis of
human leukemic cells and progenitors using the human androgen receptor (AR) gene, Leukemia 9 (1995)
1578e1582. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | D. Ehling, I. Kennerknecht, A. Junge, B. Prager, R. Exeler, B. Behre, J. Horst, T. Schmitt-John, O. Bartsch,
J. Wirth, Mild phenotype in two unrelated patients with a partial deletion of 21q22.2-q22.3 defined by FISH and
molecular studies, Am. J. Med. Genet. A 131 (2004) 265e272. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | M. Hattori, A. Fujiyama, T.D. Taylor, H. Watanabe, T. Yada, H.S. Park, A. Toyoda, K. Ishii, Y. Totoki, D.K. Choi,
Y. Groner, E. Soeda, M. Ohki, T. Takagi, Y. Sakaki, S. Taudien, K. Blechschmidt, A. Polley, U. Menzel, J. Delabar,
K. Kumpf, R. Lehmann, D. Patterson, K. Reichwald, A. Rump, M. Schillhabel, A. Schudy, W. Zimmermann,
A. Rosenthal, J. Kudoh, K. Schibuya, K. Kawasaki, S. Asakawa, A. Shintani, T. Sasaki, K. Nagamine,
S. Mitsuyama, S.E. Antonarakis, S. Minoshima, N. Shimizu, G. Nordsiek, K. Hornischer, P. Brant, M. Scharfe,
O. Schon, A. Desario, J. Reichelt, G. Kauer, H. Blocker, J. Ramser, A. Beck, S. Klages, S. Hennig,
L. Riesselmann, E. Dagand, T. Haaf, S. Wehrmeyer, K. Borzym, K. Gardiner, D. Nizetic, F. Francis, H. Lehrach,
R. Reinhardt, M.L. Yaspo, The DNA sequence of human chromosome 21, Nature 405 (2000) 311e319. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | C. Jones, C. Booth, D. Rita, L. Jazmines, B. Brandt, A. Newlan, B. Horsthemke, Bilateral retinoblastoma in a male
patient with an X;13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation, Am.
J. Hum. Genet. 60 (1997) 1558e1562. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | B. Keren, C. Bernardin, A. Toutain, D. Heron, B. Fouquet, B. Laudier, L. Telvi, S.P. Romana, M. Vekemans,
D. Sanlaville, Pure proximal deletion of chromosome 21 and kyphosis, Eur. J. Med. Genet. 50 (2007) 469e474. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | C. Lee, D.J. Fowler, E. Lemyre, M.M. Sandstrom, L.B. Holmes, C.C. Morton, Prenatal diagnosis and molecular
cytogenetics in a case of partial trisomy 14 and monosomy 21, Am. J. Med. Genet. 100 (2001) 246e250. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | D.B. Lubahn, D.R. Joseph, M. Sar, J. Tan, H.N. Higgs, R.E. Larson, F.S. French, E.M. Wilson, The human
androgen receptor: complementary deoxyribonucleic acid cloning, sequence analysis and gene expression in
prostate, Mol. Endocrinol. 2 (1988) 1265e1275. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | S.A. Miller, D.D. Dykes, H.F. Polesky, A simple salting out procedure for extracting DNA from human nucleated
cells, Nucleic Acids Res. 16 (1988) 1215. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | Resources for molecular cytogenetics. Available from: <http://www.biologia.uniba.it/rmc>. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | M. Riegel, P. Hargreaves, A. Baumer, M. Guc-Scekic, M. Ignjatovic, A. Schinzel, Unbalanced 18q/21q translocation
in a patient previously reported as monosomy 21, Eur. J. Med. Genet. 48 (2005) 167e174. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | A. Sharp, D.O. Robinson, P. Jacobs, Absence of correlation between late-replication and spreading of X inactivation
in an X;autosome translocation, Hum. Genet. 109 (2001) 295e302. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | A.J. Sharp, H.T. Spotswood, D.O. Robinson, B.M. Turner, P.A. Jacobs, Molecular and cytogenetic analysis of the
spreading of X inactivation in X;autosome translocations, Hum. Mol. Genet. 11 (2002) 3145e3156. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | L. Telvi, J.M. Pinard, R. Ion, P.M. Sinet, A. Nicole, J. Feingold, O. Dulac, A. Pompidou, G. Ponsot, De novo
t(X;21)(q28;q11) in a girl with phenotypic features of WilliamseBeuren syndrome, J. Med. Genet. 29 (1992)
747e749. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | The GDB Human Genome Database. Available from: <www.gdb.org>. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | UCSC Genome Browser on Human, March 2006 assembly. Available from: <http://genome.ucsc.edu/>. | pt_BR |
| xmlui.metadata.dc.relation.isbasedon | R. Valero, G. Marfany, R. Gil-Benso, M.A. Iba´n˜ez, I. Lo´pes-Pajares, F. Prieto, G. Rullan, E. Sarret, R. Gonza´lez-
Duarte, Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR, J. Med. Genet. 36
(1999) 694e699. | pt_BR |
| Rights | restricted access | |
| Title | Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21 | pt_BR |
| Type | Article | |
| DOI | :10.1016/j.ejmg.2008.06.008 | |
| Abstract | We studied a child with apparent monosomy of chromosome 21. Cytogenetic, FISH and microsatellite analyses revealed a 45,X,-21,+der(X)t(X;21)(q25;q21.1) karyotype resulting from a de novo, unbalanced, X;21 non-reciprocal translocation of paternal origin, with partial monosomy of chromosomes 21 and X. An extreme, skewed X-inactivation pattern of the der(X) chromosome was demonstrated. Skewed inactivation probably accounted for a mild phenotype with respect to Xq25-->qter deletion while propagation of inactivation to the adjacent 21q region may account for mild clinical features associated to distal 21q monosomy. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Instituto Nacional do Câncer. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Instituto Nacional do Câncer. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Instituto Nacional do Câncer. Rio de Janeiro, RJ, Brasil / Universidade Federal do Estado do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Instituto Nacional do Câncer. Rio de Janeiro, RJ, Brasil Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Departamento de Genética Médica. Rio de Janeiro, RJ, Brasil | pt_BR |
| Subject | FISH | pt_BR |
| Subject | Microsatellites | pt_BR |
| Subject | Monosomy 21 | pt_BR |
| Subject | X Inactivation | pt_BR |
| DeCS | Cromossomos Humanos Par 21 | pt_BR |
| DeCS | Chromosomes, Human, X | pt_BR |
| DeCS | Translocação Genética | pt_BR |
| xmlui.metadata.dc.subject.ods | 14 Vida na água | |
