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

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

doi:10.1186/s13039-020-00515-0

Abstract

BackgroundTurner 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 presentationThe 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.ConclusionTo 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.

Highlights

ConclusionThis 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
Turner syndrome is a genetic disorder that affects women
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

Summary

Conclusion

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, mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, emphasizing the need for familiar testing for further genetic counselling

Findings

Background

Discussion and conclusion