Optical genome mapping enables constitutional chromosomal aberration detection [PDF]
American Journal of Human Genetics, 2021 Chromosomal aberrations including structural variations (SVs) are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics. Drawbacks of these tests are a very low resolution (karyotyping) and the
Tuomo Mantere +2 more
exaly +3 more sources
Clinical characterization of epilepsy in children with chromosomal aberration 47, XXY [PDF]
Brain and Behavior, 2023 Objective The phenotype of the chromosomal aberration 47, XXY exhibits considerable heterogenicity. In addition, epilepsy is extremely uncommon in individuals with this chromosomal disorder.
Congjie Chen +3 more
doaj +2 more sources
Primary immunodeficiency associated with chromosomal aberration - an ESID survey. [PDF]
Orphanet J Rare Dis, 2016 BackgroundPatients with syndromic features frequently suffer from recurrent respiratory infections, but little is known about the spectrum of immunological abnormalities associated with their underlying chromosomal aberrations outside the well-known ...
Schatorjé E +19 more
europepmc +2 more sources
Acute toxicity and chromosomal aberration toxicity of insect wax and its policosanol
Food Science and Human Wellness, 2022 An acute toxicity test in Sprague Dawley (SD) rats and a chromosomal aberration toxicity test in Chinese hamster lung (CHL) fibroblasts were conducted to promote the application of insect wax and its policosanol.
Liyi Ma, Lanxiang Liu, Xiao-Ming Chen
exaly +3 more sources
Prognostic effect of whole chromosomal aberration signatures in standard-risk, non-WNT/non-SHH medulloblastoma: a retrospective, molecular analysis of the HIT-SIOP PNET 4 trial. [PDF]
Lancet Oncol, 2018 Summary Background Most children with medulloblastoma fall within the standard-risk clinical disease group defined by absence of high-risk features (metastatic disease, large-cell/anaplastic histology, and MYC amplification), which includes 50–60% of ...
Goschzik T +10 more
europepmc +2 more sources
Lymphocyte chromosomal aberration assay in radiation biodosimetry
Journal of Pharmacy and Bioallied Sciences, 2010 Exposure to ionizing radiations, whether medical, occupational or accidental, leads to deleterious biological consequences like mortality or carcinogenesis. It is considered that no dose of ionizing radiation exposure is safe.
Paban K Agrawala +2 more
doaj +2 more sources
Necessity for retrospective evaluation of past-positive chemicals in in vitro chromosomal aberration tests using recommended cytotoxicity indices [PDF]
Genes and Environment, 2018 We have demonstrated that retrospective evaluation of existing data of in vitro chromosomal aberration test using the new cytotoxicity indices RICC (relative increase in cell count) or RPD (relative population doubling) reduces the false-positive rate ...
Hiroshi Honda +5 more
doaj +2 more sources
A case of a pulmonary mucosa‐associated lymphoid tissue lymphoma with chromosomal aberration (49, XX, +3, +i(6)(p10), +mar) [PDF]
Respirology Case Reports, 2019 We report a case of a primary pulmonary mucosa‐associated lymphoid tissue (MALT) lymphoma with chromosomal aberration (49, XX, +3, +i(6)(p10), +mar). A 59‐year‐old woman was referred to our hospital for an abnormal chest shadow detected during a routine ...
Toshihiro Ojima +5 more
doaj +2 more sources
Genotoxicity of Di (2-ethyl hexyl) phthalate
Zhongguo shipin weisheng zazhi, 2022 ObjectiveTo assess the genotoxicity of Di（2-ethylhexyl） phthalate （DEHP）.MethodsA series of guideline-compliant assays were performed to evaluate mutagenicity， chromosomal or DNA damage of DEHP， including Ames test， in vitro mammalian chromosome ...
LI Juntao +9 more
doaj +1 more source