Vlasak I, Plöchl E, Kronberger G, Bergendi E, Rittinger O, Hagemann M, Schmitt K, Blümel P, Glatzl J, Fekete G, Kadrnka-Lovrencic M, Borkenstein M, Häusler G, Frisch H
Klinische Genetik am Kinderspital, Landeskrankenanstalten Salzburg, Austria.
Klin Padiatr. 1999 Jan-Feb;211(1):30-4. doi: 10.1055/s-2008-1043759.
The presence of Y-chromosomal sequences in the cells of patients with Turner-Syndrome (TS) is a risk factor for the development of gonadal tumors. Therefore and since demonstration of Y-material usually results in prophylactic gonadectomy optimal sensitivity and specificity of the diagnosis have to be attempted. We wanted to evaluate the diagnostic potential of cytogenetic investigations as routinely employed in TS. In the most comprehensive study published so far we screened 208 TS patients for the presence of Y-chromosomal sequences by polymerase chain reaction (PCR) specific for eight different loci along the Y-chromosome. Six patients (3%) without cytogenetic evidence of Y-chromosome were found to be Y-positive. Among 12 cases with marker chromosomes two more Y-chromosomal fragments were identified. Thus, PCR-screening for Y-specific sequences was shown to be a valuable tool in the clinical management of Turner patients.
特纳综合征（TS）患者细胞中Y染色体序列的存在是性腺肿瘤发生的一个危险因素。因此，由于Y物质的检测通常会导致预防性性腺切除术，所以必须尝试实现诊断的最佳敏感性和特异性。我们想评估TS患者常规进行的细胞遗传学检查的诊断潜力。在迄今为止发表的最全面的研究中，我们通过针对Y染色体上八个不同位点的聚合酶链反应（PCR），对208例TS患者进行了Y染色体序列检测。发现6例（3%）无Y染色体细胞遗传学证据的患者Y检测呈阳性。在12例有标记染色体的病例中，又鉴定出两个Y染色体片段。因此，对Y特异性序列进行PCR筛查被证明是特纳综合征患者临床管理中的一种有价值的工具。
