Yang Xingyi, Ye Zilan, Zhang Xiaofang, Wang Huijun, Liu Chao
Guangzhou Forensic Science Institute, Guangdong Province Key Laboratory of Forensic Genetics, Guangzhou 510030, PR China; Department of Forensic Medicine, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province 510515, PR China.
Department of Forensic Medicine, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province 510515, PR China.
Leg Med (Tokyo). 2017 Jul;27:38-42. doi: 10.1016/j.legalmed.2017.06.006. Epub 2017 Jun 30.
Trisomy X (47, XXX) is a sex chromosome aneuploidy condition in which females have an extra X chromosome, compared to the 46, XX karyotype in typical females. There is considerable variation in the phenotype, with some individuals very mildly affected and others with more significant physical and psychological features. However, the trisomy X in this case, without any of these phenotype, is rarely reported. Here, we report a case found during DNA sample collection in a study of genetic polymorphism analysis of loci in Chinese ethnic group, of a female with neither laboratory or clinical signs of Triple X syndrome. She was born at her mother's 60years old and her father's 62years old. Advanced maternal age was found acting as a significant risk factor of Triplo-X. Moreover, her child are also born without manifestations of 47, XXX syndrome. Pedigree study demonstrated the normal karyotype of the children. A diagnosis of 47XXX was made on the basis of a chromosomal study. Therefore, laboratory investigations (including PCR amplification, more than two kinds of X-STR genotyping, G-banding karyotyping analysis and Pedigree study) are applied to rule out the possibility of Mosaicism (45, X0/47, XXX) and ascertain her 47XXX karyotype without mosaic. The objective of this study was to report a case of trisomy X, diagnostic investigation and management of the case, and to analysis the genetically possible reasons behind the case. To our knowledge, this case is a rare one, found in DNA sample collection for the estimation of gene frequency in the process of genetic polymorphism study, of non-mosaic 47, XXX without signs of physical syndrome and born healthy children. In this study, it revealed that the proportion of trisomy X would be more than official statistics and risk of systemic disabilities is lower than estimated. Moreover, we found out that sample mixture and mosaicism act as the interference factors in forensic test. Therefore, we draw the conclusion that attentions and certain improved methods should be applied to the diagnosis of non-mosaic triple X, which is of great significance in decreasing the interruptions in the whole process of forensic and paternity identification.
XXX三体综合征(47, XXX)是一种性染色体非整倍体疾病,与典型女性的46, XX核型相比,女性患者多了一条X染色体。其表型存在很大差异,一些个体受影响非常轻微,而另一些则有更明显的身体和心理特征。然而,本例中的XXX三体综合征患者没有任何这些表型,这种情况鲜有报道。在此,我们报告一例在对中国汉族人群基因座遗传多态性分析的研究中,于DNA样本采集过程中发现的女性患者,她既无实验室检查异常,也无XXX综合征的临床体征。她出生时母亲60岁,父亲62岁。研究发现高龄产妇是XXX三体综合征的一个重要危险因素。此外,她的孩子出生时也没有47, XXX综合征的表现。家系研究显示其孩子的核型正常。基于染色体研究确诊为47, XXX。因此,应用实验室检查(包括PCR扩增、两种以上X-STR基因分型、G显带核型分析和家系研究)来排除嵌合体(45, X0/47, XXX)的可能性,并确定她为非嵌合型47, XXX核型。本研究的目的是报告一例XXX三体综合征病例、该病例的诊断调查与处理,并分析该病例背后可能的遗传原因。据我们所知,该病例较为罕见,是在基因多态性研究中进行基因频率估计的DNA样本采集过程中发现的,为非嵌合型47, XXX,无身体综合征体征且孩子健康出生。本研究表明,XXX三体综合征的实际比例可能高于官方统计数据,且全身残疾风险低于预期估计。此外,我们发现样本混合和嵌合体是法医检测中的干扰因素。因此,我们得出结论,对于非嵌合型XXX三体综合征的诊断应予以重视并采用一定的改进方法,这对于减少法医鉴定和亲子鉴定全过程中的干扰具有重要意义。