Background: In Turner syndrome (TS), fluorescent in situ hybridization (FISH) karyotyping offers an alternative to classical karyotyping. Objective: We tested the added value of FISH karyotyping from lymphocytes (mesodermal origin), buccal cells (ectodermal origin) and a rear-tongue smear (endodermal origin) to determine the 45,X cell line fraction and its impact on patient phenotype. Design and Patients: Classical karyotyping and three FISH assays were done in 153 girls and women previously diagnosed with TS in four university hospitals. The 45,X cell line fraction was determined for each method and correlated with the major phenotypic signs. Results: Classical karyotyping identified 45,X/46,XX mosaicism in 77/153 subjects (50%), 45,X monosomy in 52/153 (34%), and other karyotypes in 24/153 (16%). FISH from lymphocytes verified 45,X in 47/52 original cases, whereas 4/52 had 45,X/46,XX and 1/52 45,X/47,XYY mosaicism. The 45,X cell line fraction was higher in FISH from lymphocytes compared to classical karyotyping (median 86.4% versus 70.0%; p<0.001), while there was no difference for FISH from buccal or rear-tongue smear cells. The mean 45,X cell line fraction was more abundant in patients with several of the characteristic phenotypic signs compared to patients without them (p<0.01), but the predictive power was insufficient. Conclusion: FISH analysis confirmed the findings of classical karyotyping; only a few 45,X monosomy cases were reclassified as mosaics. The 45,X cell line fraction did not show clinically meaningful prediction of the phenotype. FISH analysis of buccal or rear-tongue epithelial cells may be a non-inferior, less invasive alternative to classical karyotyping.


中文翻译：

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不同胚胎来源的淋巴细胞和上皮细胞的核型分析无助于预测特纳综合征的特征

背景：在特纳综合征 (TS) 中，荧光原位杂交 (FISH) 核型分析提供了一种替代经典核型分析的方法。目的：我们测试了淋巴细胞（中胚层来源）、颊细胞（外胚层来源）和舌后涂片（内胚层来源）的 FISH 核型分析的附加值，以确定 45,X 细胞系部分及其对患者表型的影响。设计和患者：对 153 名先前在四所大学医院诊断为 TS 的女孩和妇女进行了经典核型分析和三项 FISH 检测。每种方法都确定了 45,X 细胞系分数，并与主要表型标志相关联。结果：经典核型分析在 77/153 名受试者 (50%) 中确定了 45,X/46,XX 嵌合体，在 52/153 (34%) 中确定了 45,X 单体，在 24/153 (16%) 中确定了其他核型。来自淋巴细胞的 FISH 验证 45，X 在 47/52 原始病例中，而 4/52 有 45,X/46,XX 和 1/52 45,X/47,XYY 镶嵌。与经典核型分析相比，来自淋巴细胞的 FISH 中的 45,X 细胞系分数更高（中位数 86.4% 对 70.0%；p<0.001），而来自颊或后舌涂片细胞的 FISH 没有差异。与没有这些特征的患者相比，具有几种特征性表型体征的患者的平均 45,X 细胞系分数更丰富 (p<0.01)，但预测能力不足。结论：FISH分析证实了经典核型分析的结果；只有少数 45,X 单体病例被重新分类为马赛克。45,X 细胞系部分未显示具有临床意义的表型预测。口腔或舌后部上皮细胞的 FISH 分析可能是一种非劣效的、