| dc.creator | Cavalcanti, DP | |
| dc.creator | Zanchetta, LM | |
| dc.date | 2005 | |
| dc.date | JAN-MAR | |
| dc.date | 2014-11-16T04:02:21Z | |
| dc.date | 2015-11-26T16:19:24Z | |
| dc.date | 2014-11-16T04:02:21Z | |
| dc.date | 2015-11-26T16:19:24Z | |
| dc.date.accessioned | 2018-03-28T23:02:25Z | |
| dc.date.available | 2018-03-28T23:02:25Z | |
| dc.identifier | European Journal Of Medical Genetics. Elsevier Science Bv, v. 48, n. 1, n. 41, n. 50, 2005. | |
| dc.identifier | 1769-7212 | |
| dc.identifier | WOS:000229754100007 | |
| dc.identifier | 10.1016/j.ejmg.2005.01.009 | |
| dc.identifier | http://www.repositorio.unicamp.br/jspui/handle/REPOSIP/60479 | |
| dc.identifier | http://www.repositorio.unicamp.br/handle/REPOSIP/60479 | |
| dc.identifier | http://repositorio.unicamp.br/jspui/handle/REPOSIP/60479 | |
| dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1267699 | |
| dc.description | We report tetraploid/diploid mosaicism in a boy and two girls detected by cultured skin fibroblasts. In all these children, interphase-FISH using DXZ1 probe confirmed the original karyotype. Tetraploid mosaicism was also confirmed by a-satellite probes from chromosomes 2, 6, 7, 9, 10, 17, 18 and Y in fibroblasts from the boy. The common features in these children are failure to thrive, slight mental deficiency and some degree of body asymmetry. The advantage of using interphase-FISH is the possibility of analysing a great number of cells in short time, thus giving a more precise percentage with regard to abnormal cells. (c) 2005 Elsevier SAS. All rights reserved. | |
| dc.description | 48 | |
| dc.description | 1 | |
| dc.description | 41 | |
| dc.description | 50 | |
| dc.language | en | |
| dc.publisher | Elsevier Science Bv | |
| dc.publisher | Amsterdam | |
| dc.publisher | Holanda | |
| dc.relation | European Journal Of Medical Genetics | |
| dc.relation | Eur. J. Med. Genet. | |
| dc.rights | fechado | |
| dc.rights | http://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy | |
| dc.source | Web of Science | |
| dc.subject | body asymmetry | |
| dc.subject | chromosome abnormality | |
| dc.subject | congenital anomalies | |
| dc.subject | interphase-FISH | |
| dc.subject | mosaicism | |
| dc.subject | tetraploidy | |
| dc.subject | Liveborn Infant | |
| dc.subject | Female | |
| dc.subject | Fibroblasts | |
| dc.subject | Polyploidy | |
| dc.subject | Colchicine | |
| dc.subject | Phenotype | |
| dc.subject | Cells | |
| dc.title | Interphase-FISH study in three patients with tetraploid/diploid mosaicism | |
| dc.type | Artículos de revistas | |
