ArticleMolecular cytogenetics2014
Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- [Genetic analysis of 46, XX, t(1;6;14) complex translocation: A case report].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2026Article
- Identification of a complex chromosomal insertion using the chromosome conformation based karyotyping technique for the implementation of PGT-SR.BMC genomics · 2026Article
- Identification of Balanced and Unbalanced Complex Chromosomal Rearrangement Involving Chromosomes 1, 11, and 15.Cureus · 2021Article
- The influence of balanced complex chromosomal rearrangements on preimplantation embryonic development potential and molecular karyotype.BMC genomics · 2020Article
- Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.Molecular cytogenetics · 2018Article
- A family study of complex chromosome rearrangement involving chromosomes 1, 8, and 11 and its reproductive consequences.Journal of assisted reproduction and genetics · 2017Article
- Relationship Between P15 Gene Mutation and Formation and Metastasis of Malignant Osteosarcoma.Medical science monitor : international medical journal of experimental and clinical research · 2016Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBalanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) - up to date about 260 cases were described.
resultsThe described patient and her husband were referred to genetic counseling clinic because of four reproductive failures. GTG-banded chromosome analysis revealed presence of apparently balanced complex translocation t(2;5;13), which was verified and confirmed by molecular cytogenetics with single copy probes. This complex aberration was most likely responsible for reproductive failures in our patient. Since no high resolution molecular karyotyping (microarrays) was used, this rearrangement can only be considered to be balanced at cytogenetic level. DISCUSSION: Due to small number of reported cases of CCRs/BCTs and individual as well as unique character of such rearrangements, genetic counseling for CCRs carriers is complex and requires detailed pedigree analysis, as well as extended clinical and genetic testing.
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