Navegando por Palavras-chave "mosaicism"

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    Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue
    (Wiley-Blackwell, 2006-09-01) Guedes, Alexis D.; Bianco, Bianca; Lipay, Monica V. N.; Brunoni, Decio; Chauffaille, Maria de Lourdes; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Fleury Ctr Diagnost Med
    We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y-specific sequences. These analyses allowed Lis to characterize the Y-derived chromosome as being an isodicentric Yp chromosorne (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%). (c) 2006 Wiley-Liss, Inc.
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    Tetraploid/diploid mosaicism: case report and review of the literature
    (Elsevier B.V., 2002-10-01) Alonso, Luís [UNIFESP]; Melaragno, Isabel [UNIFESP]; Bortolai, Adriana [UNIFESP]; Takeno, Silvia [UNIFESP]; Brunoni, Decio [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    We report a girl with tetraploid/diploid mosaicism who presents failure to thrive and multiple minor anomalies. the clinical features of the proband are compared with the 13 previously reported cases with similar karyotype. (C) 2002 Editions scientifiques et medicales Elsevier SAS. All rights reserved.