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Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report.
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ABSTRACT:
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.
SUBMITTER: Leone PE
PROVIDER: S-EPMC7664101 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Publications
Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report.
Molecular cytogenetics 20201113 1
<h4>Background</h4>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.<h4>Case presentation</h4>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( ...[more]