Guedes Alexis D, Bianco Bianca, Lipay Mônica V N, Brunoni Décio, de Lourdes Chauffaille Maria, Verreschi Ieda T N
Discipline of Endocrinology, Department of Medicine, Federal University of São Paulo, São Paulo, Brazil.
Am J Med Genet A. 2006 Sep 1;140A(17):1871-5. doi: 10.1002/ajmg.a.31363.
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 us to characterize the Y-derived 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%).
我们报告了一名女孩，尽管其核型为45,X/46,X,der(Y)，但除生长速率降低外，未表现出男性化迹象或乌尔里希-特纳综合征（UTS）的体征。由于存在发生性腺母细胞瘤的风险，在进行预防性性腺切除术后，通过荧光原位杂交（FISH）和聚合酶链反应（PCR）对性腺和外周血样本进行分析，以检测Y特异性序列。这些分析使我们能够将源自Y的染色体鉴定为等臂双着丝粒Yp染色体（idic(Yp)），并显示在两个分析组织之间45,X/46,X,idic(Yp)嵌合体的分布存在明显差异。结果表明，尽管在外周血中几乎所有细胞（97.5%）都属于具有重复SRY基因的idic(Yp)系，但这并未决定患者任何程度的男性性分化，因为在性腺中主要的细胞系是45,X（60%）。
