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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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Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq [PDF]
BMC Pregnancy and ChildbirthBackground The aim of this study was to investigate the detection capability of medium-coverage whole-genome sequencing for chromosomal mosaicism in prenatal diagnosis, and to evaluate the pregnancy outcome of mosaicism.
Jiazhen Chang +7 more
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A rare case of uniparental disomy 9 concomitant with low-level mosaicism [PDF]
Вавиловский журнал генетики и селекцииUniparental disomy of chromosome 9, in combination with low-level mosaicism for chromosome 9, represents a rare chromosomal disorder. One of the mechanisms underlying the formation of uniparental disomy is the trisomy rescue, which concurrently results ...
A. S. Iakovleva +3 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
doaj +1 more source
#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
doaj +1 more source
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
doaj +1 more source
EM-mosaic detects mosaic point mutations that contribute to congenital heart disease. [PDF]
, 2020 BackgroundThe contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood.
Bernstein, Daniel +23 more
core +3 more sources
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
doaj +1 more source
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
openaire +2 more sources
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
doaj +1 more source