{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Del Llano E"],"funding":["Agence Nationale de la Recherche"],"pagination":["3664"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9965694"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(4)"],"pubmed_abstract":["Reciprocal translocation (RT) carriers produce a proportion of unbalanced gametes that expose them to a higher risk of infertility, recurrent miscarriage, and fetus or children with congenital anomalies and developmental delay. To reduce these risks, RT carriers can benefit from prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD). Sperm fluorescence in situ hybridization (spermFISH) has been used for decades to investigate the sperm meiotic segregation of RT carriers, but a recent report indicates a very low correlation between spermFISH and PGD outcomes, raising the question of the usefulness of spermFISH for these patients. To address this point, we report here the meiotic segregation of 41 RT carriers, the largest cohort reported to date, and conduct a review of the lite"],"journal":["International journal of molecular sciences"],"pubmed_title":["Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry."],"pmcid":["PMC9965694"],"funding_grant_id":["ANR-21-CE17-0007"],"pubmed_authors":["Morel F","Coutton C","Perrin A","Hennebicq S","Satre V","Brouillet S","Harbuz R","Ray PF","Amblard F","Devillard F","Del Llano E","Bidart M","Martinez G"],"additional_accession":[]},"is_claimable":false,"name":"Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.","description":"Reciprocal translocation (RT) carriers produce a proportion of unbalanced gametes that expose them to a higher risk of infertility, recurrent miscarriage, and fetus or children with congenital anomalies and developmental delay. To reduce these risks, RT carriers can benefit from prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD). Sperm fluorescence in situ hybridization (spermFISH) has been used for decades to investigate the sperm meiotic segregation of RT carriers, but a recent report indicates a very low correlation between spermFISH and PGD outcomes, raising the question of the usefulness of spermFISH for these patients. To address this point, we report here the meiotic segregation of 41 RT carriers, the largest cohort reported to date, and conduct a review of the lite","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Feb","modification":"2025-04-19T07:37:40.689Z","creation":"2025-02-18T23:57:51.266Z"},"accession":"S-EPMC9965694","cross_references":{"pubmed":["36835074"],"doi":["10.3390/ijms24043664"]}}