ArticleF&S reports2021
Complex reciprocal translocations, more complex than initially thought: a case report.
Article in F&S reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Article
- Initially categorized 46,XY embryo transfer ending with 45,X products of conception-a case report and a review of discordant result management.F&S reports · 2024Article
- Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors.Frontiers in genetics · 2024Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo present a case of a couple who experienced spontaneous abortion after the transfer of a preimplantation genetic testing for structural rearrangement (PGT-SR) normal/balanced embryo. The embryo was later determined to have significant paternally inherited chromosome deletion that was not previously identified as part of a complex translocation.
designCase report.
settingSingle infertility practice. PATIENTS: A 35-year-old patient with a history of five spontaneous abortions and her 36-years-old partner, a carrier of a balanced reciprocal translocation.
interventionsIn vitro fertilization with PGT-SR and follow-up genetic testing.
main outcome measuresIdentification of a paternal reciprocal translocation, pregnancy outcome after PGT-SR, and follow-up genetic testing after the spontaneous abortion of a PGT-SR normal/balanced embryo.
resultsKaryotyping for a couple with a history of recurrent pregnancy loss identified a paternal reciprocal translocation between chromosomes 5 and 17 after G-banding analysis. In vitro fertilization with PGT-SR resulted in one normal/balanced embryo. The couple experienced a 9-week spontaneous abortion of the transfer of the embryo. Testing of product of conception identified a 3.2-Mb deletion on chromosome 17 resulting in the loss of 55 known genes and deemed likely pathogenic. Repeat karyotyping using G-banding and metaphase fluorescence in situ hybridization identified an additional chromosomal translocation, a segment of chromosome 17 translocated to chromosome 6, the same segment of deoxyribonucleic acid absent from the fetus.
conclusionsPreimplantation genetic testing for structural rearrangement cases are complex. Genetic testing must be completed with the best available technology by a reliable testing center. We, therefore, recommend that all chromosomal translocations detected by G-banding be further investigated with metaphase fluorescence in situ hybridization. When unexpected results occur in this patient population, testing beyond the standard of care may be required, including advanced molecular testing.
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