Mosaicism - Open Access .click

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Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia [PDF]

, 2002
Heterozygous mutations in neutrophil elastase have been detected in many sporadic cases of congenital neutropenia. However, a convincing pathogenetic mechanism has not been established, and it is unclear whether the effects of the mutant enzyme occur ...
Ancliff, PJ +13 more
core +1 more source

Living birth following preimplantation genetic testing for monogenic disorders to prevent low-level germline mosaicism related Nicolaides–Baraitser syndrome

Frontiers in Genetics, 2022
Objective: Paternal sperm mosaicism has few consequences for fathers for mutations being restricted to sperm. However, it could potentially underlie severe sporadic disease in their offspring.
Jiexue Pan +14 more
doaj +1 more source

Genetic mosaics [PDF]

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

mosaicism [PDF]

, 2023
The vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease (AID) due to postzygotic UBA1 variants.
Santos Castañeda +110 more
core +1 more source

Embryo Mosaicism Rate in National Referral Hospital of Indonesia Detected Using Next-Generation Sequencing: A Retrospective Study [PDF]

International Journal of Fertility and Sterility
Background: Chromosomal mosaicism, a phenomenon observed in a minority of embryos, showcases its prevalenceand inherent unpredictability, leading to variations in embryo mosaic rates across different centers.
Achmad Kemal Harzif +14 more
doaj +1 more source

The Use of Fluorescence In situ Hybridisation in the Diagnosis of Hidden Mosaicism in Egyptian Patients with Turner Syndrome

Journal of Human Reproductive Sciences, 2023
Background: Turner syndrome (TS) is the most common chromosomal abnormality in females. The diagnosis of TS is based on karyotyping of 30 blood lymphocytes. This technique does not rule out tissue mosaicism or low-grade mosaicism in the blood. Because of
Heba Mohamed Ossama, Soha Kholeif, Ghada Mohamed Elhady +2 more
doaj +1 more source

Regional and developmental characteristics of human embryo mosaicism revealed by single cell sequencing.

PLoS Genetics, 2022
Chromosomal mosaicism is common throughout human pre- and post-implantation development. However, the incidence and characteristics of mosaicism in human blastocyst remain unclear.
Yixin Ren +12 more
doaj +1 more source

Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present perinatal detection of disomy X cell line by fluorescence in situ hybridization (FISH) in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcome. Case report: A 34-year-old,
Chih-Ping Chen +6 more
doaj +1 more source

Revertant mosaicism in the skin

, 2013
Revertant mosaicism is a naturally occurring phenomenon involving the spontaneous correction of a pathogenic mutation in a somatic cell. Revertant mosaicism is not a rare event and has been described in several inherited skin conditions, including ...
McGrath, J. A., Lai-Cheong, J. E.
core +5 more sources

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Scientific Reports, 2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported
Ana Latorre-Pellicer +24 more
doaj +1 more source

turner syndrome
prenatal diagnosis
gonadal mosaicism

next-generation sequencing
amniocentesis
karyotype