Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics. [PDF]
Mol Genet Genomic Med, 2022 Balanced reciprocal translocation is one of the most common chromosomal abnormalities in humans that may lead to infertility, recurrent pregnancy loss, or having children with physical or mental abnormalities.
Dai P +7 more
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Effects of chromosomal translocation characteristics on fertilization and blastocyst development — a retrospective cohort study [PDF]
BMC Medical Genomics, 2023 Objective To determine the effect of different translocation characteristics on fertilization rate and blastocyst development in chromosomal translocation patients. Methods This retrospective cohort study was conducted at the Third Affiliated Hospital of
Shanshan Wu +8 more
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Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia [PDF]
Molecular Genetics & Genomic Medicine, 2020 Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome.
Katrine S. Aagaard +7 more
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Application of Chromosome Conformation Capture Method for Detection MYC/TRD Chromosomal Translocation in Leukemia Cell Line [PDF]
International Journal of Hematology-Oncology and Stem Cell Research, 2020 Background: Chromosomal breakpoints are the most common cause of hereditary diseases and cancers. Today, many standard clinical methods such as cytogenetic and PCR based techniques are used which have limitation regarding detection resolution. Chromosome
Moloud Absalan +7 more
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Defining chromosomal translocation risks in cancer. [PDF]
Proc Natl Acad Sci U S A, 2016 Hogenbirk MA +6 more
europepmc +2 more sources
CHROMOSOME SEGREGATION IN TRANSLOCATIONS INVOLVING CHROMOSOME 6 IN MAIZE [PDF]
Genetics, 1950 C. R. Burnham
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A Case of Partial Trisomy of 10q and Partial Monosomy of 6p Resulting from Maternal t(6;10) (p23;q24) [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chromosomal analysis is practiced routinely since long time in congenital malformations to find out structural and or numerical chromosomal aberrations.
ANJALI SATYEN SABNIS +2 more
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Clinical effect of chromosome balanced translocation study of the effect on genomic stability
生物医学转化, 2022 Objective To explore the effect of chromosome balanced translocation on genomic stability. Methods Abnormal embryos from patients with preimplantation genetic testing for structural rearrangements (PGTSR) indication between January 2019 and December 2020
Gao Ming +6 more
doaj +1 more source
The biogenesis of chromosome translocations [PDF]
Nature Cell Biology, 2014 Chromosome translocations are catastrophic genomic events and often play key roles in tumorigenesis. Yet the biogenesis of chromosome translocations is remarkably poorly understood. Recent work has delineated several distinct mechanistic steps in the formation of translocations, and it has become apparent that non-random spatial genome organization ...
Vassilis Roukos, Tom Misteli
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Switching on Chromosomal Translocations [PDF]
Cancer Research, 2006 Abstract Activation-induced deaminase initiates three different antibody diversification reactions: class switch recombination, somatic hypermutation (SHM), and gene conversion. We have shown that, in addition to antibody diversification, activation-induced deaminase can also initiate Burkitt's lymphoma–like c-myc/IgH translocations ...
Michel C. Nussenzweig +2 more
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