Determinação do fenótipo sexual em uma criança com Mosaicismo 45,X/46,X,Idic(Yp): importância da proporção relativa da linhagem 45,X no tecido gonadal

Determinação do fenótipo sexual em uma criança com Mosaicismo 45,X/46,X,Idic(Yp): importância da proporção relativa da linhagem 45,X no tecido gonadal

Alternative title 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
Author Guedes, Alexis Dourado Autor UNIFESP Google Scholar
Advisor Verreschi, Ieda Therezinha do Nascimento Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract We report here 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 us to characterize the Yderived chromosome as being an isodicentric Yp chromosome [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%).
Keywords Diferenciação sexual
Isocromossomos
Cromossomo Y
Hibridação in situ fluorescente
Reação de cadeia de polimerase
Turner Syndrome
Isochromosomes
Polymerase chain reaction
Sex differentiation
Fluorescence in situ hybridization
Y chromosome
Mosaicismo
Mosaicism
Síndrome de Turner
Language Portuguese
Date 2006-12-31
Published in GUEDES, Alexis Dourado. Determinação do Fenótipo Sexual em uma Criança com Mosaicismo 45,X/46,X,Idic(Yp): Importância da Proporção Relativa da Linhagem 45,X no Tecido Gonadal. 2006. Dissertação (Mestrado) - Universidade Federal de São Paulo (UNIFESP), São Paulo, 2006.
Publisher Universidade Federal de São Paulo (UNIFESP)
Extent 46 p.
Access rights Open access Open Access
Type Dissertation
URI http://repositorio.unifesp.br/handle/11600/9326

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