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Spectrum of Various Mosaicism Types According to Female Age: An Analysis of 36,506 Blastocysts Using Preimplantation Genetic Testing for Aneuploidy [PDF]
BiomedicinesBackground/Objectives: Mosaicism in preimplantation embryos has important implications for embryo selection and reproductive outcomes. This study investigates the age-related frequency of mosaicism, analyzes its subtypes, and evaluates its clinical ...
Min Seo Jeon +9 more
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#365 : Characteristics of Embryo Mosaicism Detected Using Next-Generation Sequencing PGT-A
Fertility & Reproduction, 2023 Background and Aims: Chromosomal mosaicism may occur in minority of embryos. Their commonality and uncertainty made the embryo mosaic rates vary from center to center.
Muhammad Ikhsan +10 more
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Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms
Endocrine Connections, 2022 Purpose: Mosaicism is a feature of several inherited tumor syndromes. Only a few cases of mosaicism have been described in multiple endocrine neoplasia type 1 (MEN1).
Arnaud Lagarde +13 more
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Biomedicines, 2021 Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and
Sumer Baroud +2 more
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Revealing parental mosaicism: the hidden answer to the recurrence of apparent de novo variants
Human Genomics, 2023 Mosaicism refers to the presence of two or more populations of genetically distinct cells within an individual, all of which originate from a single zygote. Previous literature estimated the percentage of parental mosaicism ranged from 0.33 to 25.9%.
Mianne Lee +8 more
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WormBook, 2005 Genetic mosaics can be used to gain insight into the cell specificity of gene function. How Caenorhabditis elegans mosaics are typically generated is reviewed, and several examples with relevance to developmental studies are mentioned. One example is mpk-1, which encodes a member of the Ras-MAP-kinase pathway.
John, Yochem, Robert K, Herman
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Molecular Cytogenetics, 2020 Background Somatic chromosomal mosaicism is the presence of cell populations differing with respect to the chromosome complements (e.g. normal and abnormal) in an individual.
Svetlana G. Vorsanova +2 more
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Medical Hypotheses, 2010 Although all multicellular organisms undergo structural and functional deterioration with age, senescence is not a uniform process. Rather, each organism experiences a constellation of changes that reflect the heterogeneous effects of age on molecules, cells, organs and systems, an idiosyncratic pattern that we refer to as mosaic aging. Varying genetic,
Lary C, Walker, James G, Herndon
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Cell Cycle, 2012 "RASopathies" are a group of developmental syndromes with partly overlapping clinical symptoms that are caused by germline mutations of genes within the Ras/MAPK signaling pathway. Mutations affecting this pathway can also occur in a mosaic state, resulting in congenital syndromes often distinct from those generated by the corresponding germline ...
Christian, Hafner, Leopold, Groesser
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Molecular Genetics & Genomic Medicine, 2022 Background De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre‐zygotically in parental germ cells, the recurrence risk might be higher.
Sofia Frisk +9 more
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