Ogata T, Matsuo N
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Hum Genet. 1995 Jun;95(6):607-29. doi: 10.1007/BF00209476.
Although clinical features in Turner syndrome have been well defined, underlying genetic factors have not been clarified. To deduce the factors leading to the development of clinical features, we took the following four steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of factors that could lead to Turner features; and (4) correlation of the clinical features with the effects of specific factors. The results indicate that the clinical features in 45,X and in other female sex chromosome aberrations may primarily be determined by: (1) degree of global non-specific developmental defects caused by quantitative alteration of a euchromatic or non-inactivated region; (2) dosage effect of a pseudoautosomal growth gene(s), a Y-specific growth gene(s), and an Xp-Yp homologous lymphogenic gene(s); and (3) degree of chromosome pairing failure in meiocytes that are destined to develop as oocytes in the absence of SRY. 1991; Grumbach and Conte 1992). However, the pertinent factors have not been determined to date. The method to clarify the factors responsible for the development of the Turner phenotype can be broken down into the following steps: (1) assessment of clinical features in classic 45,X Turner syndrome; (2) review of clinical features in various female sex chromosome aberrations (karyotype-phenotype correlations); (3) assessment of factors that could lead to Turner features; and (4) correlation of the clinical features with the effects of specific factors. If the clinical features in 45,X and in other female sex chromosome aberrations are explained by the effects of specific factors, it can be said that such factors contribute to the development of Turner features. In this paper, we take each of the above steps, and propose the principal factors involved in the development of clinical features in Turner syndrome.
虽然特纳综合征的临床特征已得到明确界定，但其潜在的遗传因素尚未阐明。为了推断导致临床特征出现的因素，我们采取了以下四个步骤：（1）评估经典45,X特纳综合征的临床特征；（2）回顾各种女性性染色体畸变中的临床特征（核型-表型相关性）；（3）评估可能导致特纳特征的因素；（4）将临床特征与特定因素的影响进行关联。结果表明，45,X及其他女性性染色体畸变中的临床特征可能主要由以下因素决定：（1）常染色质或非失活区域定量改变引起的整体非特异性发育缺陷程度；（2）假常染色体生长基因、Y特异性生长基因和Xp-Yp同源淋巴生成基因的剂量效应；（3）在没有SRY的情况下注定发育为卵母细胞的减数分裂细胞中染色体配对失败的程度（1991年；格鲁巴赫和孔特，1992年）。然而，迄今为止相关因素尚未确定。阐明导致特纳表型出现的因素的方法可细分为以下步骤：（1）评估经典45,X特纳综合征的临床特征；（2）回顾各种女性性染色体畸变中的临床特征（核型-表型相关性）；（3）评估可能导致特纳特征的因素；（4）将临床特征与特定因素的影响进行关联。如果45,X及其他女性性染色体畸变中的临床特征可以由特定因素的影响来解释，那么可以说这些因素促成了特纳特征的出现。在本文中，我们采取上述每一个步骤，并提出特纳综合征临床特征出现所涉及的主要因素。
