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一名患有特纳综合征和t(2;12)的患者的细胞遗传学和基因组分析：病例报告

Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report.

作者信息

Leone Paola E, Yumiceba Verónica, Jijón-Vergara Ariana, Pérez-Villa Andy, Armendáriz-Castillo Isaac, García-Cárdenas Jennyfer M, Guerrero Santiago, Guevara-Ramírez Patricia, López-Cortés Andrés, Zambrano Ana K, Hernández-Rivas Jesús M, García Juan Luis, Paz-Y-Miño César

机构信息

Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Av. Mariscal Sucre y Av. Mariana de Jesús, Sede Occidental, Bloque I, 2 Floor, 170129, Quito, Ecuador.

Servicio de Hematología, Hospital Universitario de Salamanca, Universidad de Salamanca, Salamanca, Spain.

出版信息

Mol Cytogenet. 2020 Nov 13;13(1):46. doi: 10.1186/s13039-020-00515-0.

DOI:10.1186/s13039-020-00515-0
PMID:33292387
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7664101/
Abstract

BACKGROUND

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.

CASE PRESENTATION

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.

CONCLUSION

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.

摘要

背景

特纳综合征是一种影响女性的遗传性疾病。它由一条缺失或不完整的X染色体引起，该染色体可能以嵌合体形式存在或不存在。有12例特纳综合征患者出现常染色体结构改变。

病例报告

本病例报告描述了一名患者，其2号和12号染色体之间存在母系遗传的相互易位，伴有X单体型45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]的嵌合体。通过基因定位阵列，在23对染色体中确定了患者体内发生改变的基因。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。

结论

据我们所知，这是首例在特纳综合征患者中报道并经传统细胞遗传学、荧光原位杂交和分子遗传学证实的(2;12)易位病例。我们患者的临床特征与一条X染色体的缺失密切相关，然而轻度智力残疾可能由常染色体基因解释。家族性易位的存在是一个常见发现，因此强调了进行家族检测以提供进一步遗传咨询的必要性。

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