Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

中文翻译：

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特纳综合征和t（2; 12）患者的细胞遗传学和基因组分析：病例报告

特纳综合征是一种影响女性的遗传性疾病。它是由X染色体缺失或不完整引起的，可以将其显示为马赛克或不显示。有12例Turner综合征患者的常染色体结构发生改变。本病例报告描述了一个患者，该患者在2号和12号染色体之间具有相互的，母亲遗传的易位，并且具有X单体45，X，t（2; 12）（p13; q24）[95] / 46，XX，t（ 2; 12）（p13; q24）[5]。通过基因作图阵列，确定了23对染色体中患者的基因改变。使用生物信息学工具将这些基因与患者的临床特征相关联。据我们所知，这是首例在特纳综合征患者中报告易位（2; 12）并通过常规细胞遗传学证实的病例，鱼和分子遗传学。我们患者的临床特征与一条X染色体的丢失密切相关，但是常染色体基因很可能可以解释轻度智力障碍。家族易位的存在是常见的发现，因此强调需要进行进一步的遗传咨询的熟悉测试。