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.

AUTOR(ES)
DATA DE PUBLICAÇÃO

2006

RESUMO

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%).

ASSUNTO(S)

mosaicism 2-diferenciação sexual fluorescence in situ hybridization isochromosomes polymerase chain reaction 4-cromossomo y 1-mosaicismo 6- reação de cadeia de polimerase. sex differentiation ullrich-turner yndrome. endocrinologia 5- hibridação in situ fluorescente 3-isocromossomos y chromosome

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