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

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 transloc

SUBMITTER: Leone PE 

PROVIDER: S-EPMC7664101 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature