Results 81 to 90 of about 1,000,594 (265)
Clinics and Practice, 2016 A 41-year old pregnant woman underwent amniocentesis to conduct a conventional karyotyping analysis; the analysis reported an abnormal karyotype: 46,XY,add(9)(p24). Chromosomal microarray analysis (CMA) is utilized in prenatal diagnoses.
Akiko Takashima +2 more
doaj +1 more source
Nature Communications, 2023 The progression of precancerous lesions to malignancy is often accompanied by increasing complexity of chromosomal alterations but how these alterations arise is poorly understood.
Chunyang Bao +17 more
doaj +1 more source
AutoKary2022: A Large-Scale Densely Annotated Dataset for Chromosome Instance Segmentation [PDF]
arXiv, 2023 Automated chromosome instance segmentation from metaphase cell microscopic images is critical for the diagnosis of chromosomal disorders (i.e., karyotype analysis). However, it is still a challenging task due to lacking of densely annotated datasets and the complicated morphologies of chromosomes, e.g., dense distribution, arbitrary orientations, and ...
arxiv
Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]
, 2019 Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya) +3 more
core +3 more sources
Validation of phylogenetic informative Y-InDels in Y-chromosomal haplogroup O-M175
Frontiers in Genetics, 2023 The Y-chromosomal haplogroup tree, which consists of a group of Y-chromosomal loci with phylogenetic information, has been widely applied in anthropology, archaeology and population genetics.
Zhihan Zhou +6 more
doaj +1 more source
Resolving the degree of order in the bacterial chromosome using a statistical physics approach [PDF]
arXiv, 2020 While bacterial chromosomes were long thought to be amorphous, recent experiments reveal pronounced organizational features. However, the extent of bacterial chromosome organization remains unclear. Here, we develop a fully data-driven maximum entropy approach to extract the distribution of single-cell chromosome conformations from experimental ...
arxiv
Why Y chromosome is shorter and women live longer? [PDF]
Eur. Phys. J. B 65, 149-153 (2008), 2008 We have used the Penna ageing model to analyze how the differences in evolution of sex chromosomes depend on the strategy of reproduction. In panmictic populations, when females (XX) can freely choose the male partner (XY) for reproduction from the whole population, the Y chromosome accumulates defects and eventually the only information it brings is a
arxiv +1 more source
Genetic Requirements for Intra-Chromosomal Deletions [PDF]
, 2020 Chromosomal deletions are one of the most dangerous types of DNA damage and often arise as a result of inappropriately repaired DNA double strand breaks (DSB).
McPherson, Matthew
core
Hexavalents in spermatocytes of Robertsonian heterozygotes between Mus m. domesticus 2n 26 from the Vulcano and Lipari Islands (Aeolian Archipelago, Italy) [PDF]
, 2018 The size and shape of the chromosomes, as well as the chromosomal domains that compose them, are determinants in the distribution and interaction between the bivalents within the nucleus of spermatocytes in prophase I of meiosis.
Eliana Ayarza +6 more
core +3 more sources
Cytogenetic techniques in current biomedical research. Part II: chromosomal rearrangements
Фундаментальная и клиническая медицина, 2022 Mutations represent a natural mechanism for adaptation of species to changing environmental conditions. Chromosomal rearrangements play a pivotal role in the evolution, as evidenced by the comparison of human and non-human primate karyotypes, and have ...
А. N. Volkov, O. I. Rytenkova
doaj +1 more source