Navegando por Palavras-chave "Y chromosome"

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    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
    (Universidade Federal de São Paulo (UNIFESP), 2006-12-31) Guedes, Alexis Dourado [UNIFESP]; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    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%).
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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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    Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men
    (Associação Brasileira de Divulgação Científica, 2003-06-01) São Pedro, Simone Lima [UNIFESP]; Fraietta, Renato [UNIFESP]; Spaine, Deborah Montagnini [UNIFESP]; Porto, Catarina Segreti [UNIFESP]; Srougi, Miguel [UNIFESP]; Cedenho, Agnaldo Pereira [UNIFESP]; Avellar, Maria Christina Werneck [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    We determined the prevalence of Y chromosome deletions in a population of 60 Brazilian nonobstructive azoospermic and severely oligozoospermic men. PCR-based screening of microdeletions was performed on lymphocyte DNA for the presence of 14 sequence-tagged sites (STS) located in the azoospermic factor (AZF) on the Yq chromosome. All STS were amplified efficiently in samples from 12 fertile men tested, but failed to be amplified in samples from fertile women, indicating the specificity of PCR conditions for Yq screening. Overall, 4 of the 60 infertile patients tested (6.7%) exhibited deletion of the Y chromosome, 2 of them being severely oligozoospermic patients (P10 and P32) and 2 azoospermic men (patients P47 and P57). Patients P47 and P57 presented larger deletions in the AZFa, AZFb and AZFc subregions, with apparent loss of Yq material evidenced by karyotype analysis. Patients P10 and P32 presented deletions confined to the AZFc region, involving the DAZ locus. Male relatives of patients P10 and P32 had no Y chromosome deletions and presented a normal karyotype, suggesting a de novo status of the deletions found. Our data add to the growing literature showing that microdeletions of the Y chromosome can be the cause of male idiopathic infertility.