Ullrich Turner Yndrome
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1. 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. / 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.
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
Publicado em: 2006