Results 11 to 20 of about 199,308 (309)
Pathogenic Mechanisms of Somatic Mutation and Genome Mosaicism in Aging.
Cell, 2020 Age-related accumulation of postzygotic DNA mutations results in tissue genetic heterogeneity known as somatic mosaicism. Although implicated in aging as early as the 1950s, somatic mutations in normal tissue have been difficult to study because of their
J. Vijg, Xiao Dong
semanticscholar +1 more source
F&S Reports, 2023 Objective: To understand how mosaicism varies across patient-specific variables and clinics. Design: Cross-sectional cohort. Setting: Genetic testing laboratory.
Abigail Armstrong, M.D. +5 more
doaj +1 more source
Mosaicism in 22q11.2 Microdeletion Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2018 Introduction: Microdeletion syndrome is characterized by sub-microscopic chromosomal deletion smaller than 5 Million bp (5Mb) and frequently associated with multiple congenital anomalies.
Ashutosh Halder +2 more
doaj +1 more source
Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism
bioRxiv, 2020 Less than half of human zygotes survive to live birth, primarily due to aneuploidies of meiotic or mitotic origin. Mitotic errors lead to chromosomal mosaicism, defined by multiple cell lineages with distinct chromosome complements.
Margaret R. Starostik +2 more
semanticscholar +1 more source
BMC Genomics, 2022 Background In preimplantation genetic testing for aneuploidy (PGT-A), appropriate evaluation of mosaic embryos is important because of the adverse implications of transferring embryos with high-level mosaicism or discarding those with low-level mosaicism.
Dongjia Chen +13 more
doaj +1 more source
Frontiers in Reproductive Health, 2023 IntroductionUniform chromosome abnormalities are commonly seen in early pregnancy loss, with analyses of the product of conception suggesting the presence of mosaic autosomal trisomy in ∼10% of cases.
Hadassa Campos Heiser +8 more
doaj +1 more source
The birth of a baby with mosaicism resulting from a known mosaic embryo transfer: a case report
Human Reproduction, 2020 Mosaic embryos have the potential to implant and develop into healthy babies. The transfer of mosaic embryos is now considered to be a possible option for women undergoing ART with preimplantation genetic testing for aneuploidies and in the absence of ...
S. Kahraman +4 more
semanticscholar +1 more source
Mosaicism in Human Health and Disease.
Annual Review of Genetics, 2020 Mosaicism refers to the occurrence of two or more genomes in an individual derived from a single zygote. Germline mosaicism is a mutation that is limited to the gonads and can be transmitted to offspring.
Jeremy Thorpe +4 more
semanticscholar +1 more source
Frontiers in Genetics, 2023 Chromosomal mosaicism remains a perpetual diagnostic and clinical dilemma. In the present study, we detected two prenatal trisomy 9 mosaic syndrome cases by using multiple genetic testing methods.
Na Ma +13 more
doaj +1 more source
Fertility & Reproduction, 2023 Background and Aims: Mosaicism arises from errors in the cell division process and can lead to cells containing a combination of normal and mutated genes. Mosaic embryos can produce healthy babies.
Huy-Phuong Tran +5 more
doaj +1 more source