ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Reproductive outcomes in individuals with chromosomal reciprocal translocations.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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29 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- Efficiency versus efficacy: a systematic review and meta-analysis of preimplantation genetic diagnosis versus natural conception for carriers of chromosomal translocations.Journal of assisted reproduction and genetics · 2026Pooled it
- Rapid evolution driven by translocation-associated selection during meiosis.EMBO reports · 2026Article
- Partial trisomy of 1q42.1 and 8q24.3 deletion: a family history.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2026Article
- Genetic and Epigenetic Risks of Male Infertility in ART.International journal of molecular sciences · 2025Review
- Assessing patient perceptions and understandings of genetic testing after pregnancy loss.Journal of assisted reproduction and genetics · 2025Article
- Genome Editing for Fertility: Unlocking the Promise of CRISPR/Cas9 in Addressing Male Infertility - A Narrative Review.Reproductive sciences (Thousand Oaks, Calif.) · 2025Review
- Karyotypic analysis of 62,587 Han Chinese infertile couples undergoing assisted reproductive technology treatments: insights into chromosomal variations.BMC genomics · 2025Observational
- Asthenozoospermia in a patient with reciprocal translocation t(12;15): A case report.Urology case reports · 2025Article
- Chromosome defects and male factor infertility.Fertility and sterility · 2025Review
- Chromosomal segregation and recombination in human sperm cells from reciprocal translocation carriers.Journal of assisted reproduction and genetics · 2025Article
- Sequence diversity lost in early pregnancy.Nature · 2025Article
- Whole-Exome Sequencing in Recurrent Pregnancy Loss: Current Evidence and Future Directions in Saudi Arabia.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2025Review
- The clinical application and challenges of preimplantation genetic testing.Frontiers in genetics · 2025Review
- Case Report: Prenatal diagnosis of a rare complex fetal karyotype 47,U,t(10;13)(p15;q22)mat,+der(13)t(10;13)dmat resulting from 3:1 meiotic segregation of a maternal balanced translocation.Frontiers in reproductive health · 2025Article
- Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1.Nephrology (Carlton, Vic.) · 2024Article
- Delineation of Partial Chromosomal Abnormalities in Early Pregnancy Losses.Balkan journal of medical genetics : BJMG · 2024Article
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- Bilateral Ovarian Agenesis and Bone Modeling Disease in Pre-puberty Girl With Primary Amenorrhea.Cureus · 2024Article
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Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePatients with reciprocal balanced translocations (RBT) have a risk for recurrent pregnancy losses (RPL), affected child, and infertility. Currently, genetic counseling is based on karyotypes found among the products of conception (POC), although factors influencing the success of assisted reproductive technologies (ART) in RBT couples are not established.
methodsCytogenetic results from 261 POC and offspring of the parents (113 women and 90 men) with RBT were evaluated. Chromosome segregation modes and number of euploid embryos were assessed in couples undergoing in vitro fertilization.
resultsPatients with translocations involving an acrocentric chromosome have a higher risk of unbalanced gametes caused by a 3:1 segregation. Female RBT patients have a statistically higher risk of aneuploidy due to an interchromosomal effect. The rate of euploid embryos is low due to meiosis I malsegregation of RBT, meiosis II nondisjunction, additional whole chromosome or segmental aneusomies. RBT patients with RPL have a higher rate of miscarriage of euploid fetuses with RBT.
conclusionChromosome-specific factors, female gender, age, and history of RPL are the risk elements influencing pregnancy and in vitro fertilization success in RBT patients. Chromosomal microarray analysis of POC is necessary to provide an accurate and timely diagnosis for patients with adverse reproductive outcomes.
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