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Type: Artigo de periódico
Title: Interphase-FISH study in three patients with tetraploid/diploid mosaicism
Author: Cavalcanti, DP
Zanchetta, LM
Abstract: 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.
Subject: body asymmetry
chromosome abnormality
congenital anomalies
Country: Holanda
Editor: Elsevier Science Bv
Rights: fechado
Identifier DOI: 10.1016/j.ejmg.2005.01.009
Date Issue: 2005
Appears in Collections:Unicamp - Artigos e Outros Documentos

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