Comparative studies of the yield of stable and unstable chromosome aberrations have been carried out in human lymphocytes gamma irradiated in vitro within the doze range 0.1--1.0 Gy. It was observed that the yield of unstable chromosome aberrations (dicentrics and centric rings) is satisfactorily described for discovered dose range with linear-quadratic approximation. For stable chromosome aberrations in G-banded chromosome the dose response dependence was less expressed. The studies revealed non-random involvement of different chromosomes in translocations, and the most frequently involved are 1 and 13 chromosomes.
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Sci Rep
January 2025
Centre for Reproductive Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.
It has been debated whether endometriosis (EMS) adversely affects oocyte quality, potentially leading to a higher incidence of genetically unbalanced embryos or other egg factors that affect the developmental potential. In this study, we explored the effects of endometriosis on risk of chromosomally aberrant in miscarried products of conception (POC) after assisted reproductive treatment (ART), including fresh and frozen cycles. Miscarried POCs were collected from EMS patients (N = 102) and non-EMS patients (N = 441).
View Article and Find Full Text PDFJ Med Genet
January 2025
Department of Pediatrics, NHO Beppu Medical Center, Beppu, Oita, Japan
Introduction: Genotype-phenotype correlations in -related neurodevelopmental disorders (-NDDs) remain unclear. This systematic review aimed to clarify these correlations.
Methods: Searches of PubMed and Embase were conducted on 8 August 2024 to identify studies that had investigated genetically diagnosed NDDs (5q31.
Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, -FPD), caused by monoallelic deleterious germline variants, is characterized by bleeding diathesis and predisposition for hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Clinical data on FPDMM-associated AML (FPDMM-AML) are limited, complicating evidence-based clinical decision-making. Here, we present retrospective genetic and clinical data of the largest cohort of FPDMM patients reported to date.
View Article and Find Full Text PDFMicrosc Res Tech
January 2025
Molecular Biology and Genetics Department, Faculty of Engineering and Natural Sciences, Uşak University, Uşak, Turkey.
Sulfoxaflor (SFX) is an insecticide that is commonly used for the control of sap-feeding insects. Since SFX is extensively applied globally, it has been implicated in the substantial induction of environmental toxicity. Therefore, in this study, Allium cepa roots have been employed to elucidate the potential cytogenotoxic effects of SFX in non-target cells by examination of mitotic index (MI), chromosomal aberrations (CAs), and DNA damage.
View Article and Find Full Text PDFSemin Immunopathol
January 2025
Gottfried Schatz Research Center, Division of Cell Biology, Histology and Embryology, Medical University of Graz, Graz, Austria.
Microchimerism is defined as the presence of a small population of genetically distinct cells within a host that is derived from another individual. Throughout pregnancy, maternal and fetal cells are known to traffic across the feto-maternal interface and result in maternal and fetal microchimerism, respectively. However, the routes of cell transfer, the molecular signaling as well as the timing in which trafficking takes place are still not completely understood.
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