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
europepmc +2 more sources
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
doaj +2 more sources
Identification of cromosomal translocation hotspots via scan statistics [PDF]
Bioinform., 2013 The detection of genomic regions unusually rich in a given pattern is an important undertaking in the analysis of next generation sequencing data. Recent studies of chromosomal translocations in activated B lymphocytes have identified regions that are frequently translocated to c-myc oncogene.
I. T. Silva +4 more
arxiv +3 more sources
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
doaj +2 more sources
Defining chromosomal translocation risks in cancer. [PDF]
Proc Natl Acad Sci U S A, 2016 Significance Applying innovative integrative analyses of multifactorial genome-wide data, we now demonstrate that an open chromatin configuration, which is generically enriched promoter-proximal but not promoter-specific, is the common denominator and ...
Hogenbirk MA +6 more
europepmc +2 more sources
LMO2 at 25 years: a paradigm of chromosomal translocation proteins. [PDF]
Open Biol, 2015 LMO2 was first discovered through proximity to frequently occurring chromosomal translocations in T cell acute lymphoblastic leukaemia (T-ALL). Subsequent studies on its role in tumours and in normal settings have highlighted LMO2 as an archetypical ...
Chambers J, Rabbitts TH.
europepmc +2 more sources
Three-dimensional genome architecture influences partner selection for chromosomal translocations in human disease. [PDF]
PLoS ONE, 2012 Chromosomal translocations are frequent features of cancer genomes that contribute to disease progression. These rearrangements result from formation and illegitimate repair of DNA double-strand breaks (DSBs), a process that requires spatial ...
Jesse M Engreitz +2 more
doaj +7 more sources
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
doaj +2 more sources
An infant with trisomy 9p and partial trisomy 12p derived from maternal balanced translocation: A case report and literature review [PDF]
Journal of International Medical ResearchWe present here, a case of a neonate with an unbalanced chromosomal translocation due to a maternal chromosomal translocation carriage that resulted in the presence of trisomy 9p combined with a partial trisomy 12p. Karyotype analysis was performed using
Shengjin Ming +5 more
doaj +2 more sources
Mechanism of the t(14;18) chromosomal translocation: structural analysis of both derivative 14 and 18 reciprocal partners. [PDF]
Proceedings of the National Academy of Sciences of the United States of America, 1987 To elucidate the mechanism of the t(14;18)(q32;q21) chromosomal translocation found in follicular lymphoma, we examined the structure of both derivative (der) chromosomal breakpoints as well as their germ-line predecessors.
Ajay Bakhshi +8 more
openalex +2 more sources