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.
CITATION STYLE
Leone, P. E., Yumiceba, V., Jijón-Vergara, A., Pérez-Villa, A., Armendáriz-Castillo, I., García-Cárdenas, J. M., … Paz-y-Miño, C. (2020). Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report. Molecular Cytogenetics, 13(1). https://doi.org/10.1186/s13039-020-00515-0
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