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Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing.
Mol Genet Genomic Med
January 2025
Center of Reproductive Medicine, Affiliated Children's Hospital of Shanxi & Women Health Center of Shanxi Medicine University, Taiyuan, Shanxi, China.
Introduction: This study investigated the impact of the carrier on transferable blastocyst rate and live birth outcomes in couples with structural chromosomal abnormalities.
Methods: Couples were grouped into reciprocal translocation, Robertsonian translocation, or inversions groups, and clinical data were retrospectively analyzed. Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) was conducted, and pregnancy outcomes were compared.
Genotyping-by-sequencing uncovers a Thinopyrum 4StS·1JS Robertsonian translocation linked to multiple stress tolerances in bread wheat.
Theor Appl Genet
December 2024
Hungarian Research Network (HUN-REN), Centre for Agricultural Research, Agricultural Institute, Martonvásár, 2462, Hungary.
GBS read coverage analysis identified a Robertsonian chromosome from two Thinopyrum subgenomes in wheat, conferring leaf and stripe rust resistance, drought tolerance, and maintaining yield stability. Agropyron glael (GLAEL), a Thinopyrum intermedium × Th. ponticum hybrid, serves as a valuable genetic resource for wheat improvement.
View Article and Find Full Text PDFThe Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments.
Medicina (Kaunas)
October 2024
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Recurrent pregnancy loss (RPL) is a multifactorial condition, encompassing genetic, anatomical, immunological, endocrine, as well as infectious and environmental factors; however, the etiology remains elusive in a substantial number of cases. Genetic factors linked to RPL include parental karyotype abnormalities (e.g.
View Article and Find Full Text PDFParental balanced translocation carriers do not have decreased usable blastulation rates or live birth rates compared with infertile controls.
Fertil Steril
November 2024
Instituto Valenciano de Infertilidad and Reproductive Medicine Associates Global Research Alliance, Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey.
Objective: To determine whether translocation carriers have a reduced number of usable blastocysts compared with infertile controls.
Design: Retrospective cohort study.
Setting: Single infertility practice.
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Am J Hum Genet
December 2024
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02115, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address:
Article Synopsis
- Researchers tackled the challenge of studying structural variants (SVs) in repetitive genomic regions using advanced technologies like long-read sequencing and the gapless T2T assembly.
- They successfully analyzed 13 complex cases, resolving 10 by identifying specific genomic breakpoints and structures that were previously difficult to sequence, including Robertsonian translocations and ring chromosomes.
- The study highlighted new mechanisms for SV formation and provided insights into how these genome variations affect gene expression and potential implications for disease diagnosis and genome biology.
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