Nuclear chromosomal localization in human preimplantation embryos: correlation with aneuploidy and embryo morphology
McKenzie L, Carson S, Marcelli S, Rooney E, Cisneros P, Torskey S, Buster J, Simpson J, Bischoff F. Nuclear chromosomal localization in human preimplantation embryos: correlation with aneuploidy and embryo morphology. Human Reproduction 2004, 19: 2231-2237. PMID: 15298970, DOI: 10.1093/humrep/deh391.Peer-Reviewed Original ResearchConceptsChromosome 13Aneuploid blastomeresOrganization of chromosomesLocalization of chromosomesRegulatory protein functionHuman preimplantation embryosChromosome localizationChromosomal localizationProtein functionTranscriptional activityPreimplantation embryosChromosomesStage embryosEmbryo morphologyNormal blastomeresBlastomeresEmbryosHuman blastomeresSitu hybridizationSpatial organizationAbnormal embryosPreimplantation genetic diagnosisLocalizationGenetic diagnosisPaternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD: FISH analysis of sperm nuclei proves valuable
Somprasit C, Aguinaga M, Cisneros P, Torsky S, Carson S, Buster J, Amato P, McAdoo S, Simpson J, Bischoff F. Paternal gonadal mosaicism detected in a couple with recurrent abortions undergoing PGD: FISH analysis of sperm nuclei proves valuable. Reproductive BioMedicine Online 2004, 9: 225-230. PMID: 15333256, DOI: 10.1016/s1472-6483(10)62134-7.Peer-Reviewed Original ResearchConceptsPaternal gonadal mosaicismSpontaneous abortionPreimplantation genetic diagnosisIVF-PGD cyclesRecurrent spontaneous abortionGonadal mosaicismIVF cyclesPaternal germ cellsPeripheral bloodRecurrent abortionCase reportPGD cyclesNormal karyotypeFemale partnersAbortionGenetic diagnosisIVFCytogenetic studiesDown syndrome critical regionGerm cellsUnexpected findingSitu hybridizationNormal embryosMosaicism