Results 21 to 30 of about 199,308 (309)

A Six-attribute Classification of Genetic Mosaicism

Genetics in Medicine, 2020
Mosaicism denotes an individual who has at least two populations of cells with distinct genotypes that are derived from a single fertilized egg. Genetic variation among the cell lines can involve whole chromosomes, structural or copy-number variants ...
V. Martínez-Glez, J. Tenorio, J. Nevado, G. Gordo, L. Rodríguez-Laguna, M. Feito, R. D. de Lucas, L. Pérez-Jurado, Víctor L. Ruiz Pérez, A. Torrelo, N. Spinner, R. Happle, L. Biesecker, P. Lapunzina   +13 more
semanticscholar   +1 more source

MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males

BMC Medicine, 2023
Background Germline mosaicisms could be inherited to offspring, which considered as “de novo” in most cases. Paternal germline MECP2 mosaicism has been reported in fathers of girls with Rett syndrome (RTT) previously.
Yongxin Wen, Jiaping Wang, Qingping Zhang, Xiaoxu Yang, Liping Wei, Xinhua Bao   +5 more
doaj   +1 more source

Detection of gonosomal mosaicism by ultra‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy

Molecular Genetics & Genomic Medicine, 2023
Background Emery–Dreifuss muscular dystrophy (EDMD2) is a rare form of muscular dystrophy that is inherited as an autosomal dominant trait. In some patients, it is inherited from parental mosaicism, and this increases the recurrence risk significantly ...
Yanshu Xie, Jingsi Luo, Jingzi Zhong, Xu Liu, Jing Tang, Dan Lan   +5 more
doaj   +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, Jiexue Pan, Jiexue Pan, Jiexue Pan, Jie Li, Jie Li, Songchang Chen, Songchang Chen, Chenming Xu, Chenming Xu, Hefeng Huang, Hefeng Huang, Hefeng Huang, Li Jin, Li Jin   +14 more
doaj   +1 more source

Mosaicism in CRISPR/Cas9-mediated genome editing.

Developmental Biology, 2019
The CRISPR/Cas9 system is a rapid, simple, and often extremely efficient gene editing method. This method has been used in a variety of organisms and cell types over the past several years.
M. Mehravar, A. Shirazi, M. Nazari, M. Banan   +3 more
semanticscholar   +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, Muhammad Ikhsan, Pritta Ameilia Iffanolida, Kresna Mutia, Budi Wiweko, R Muharam, Kanadi Sumapraja, Gita Pratama, Mila Maidarti, Vita Silvana, Amalia Shadrina, Irene Sinta Febriana, Nafi'atul Ummah, Aisyah Retno Puspawardani, Andon Hestiantoro   +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, Zhiqiang Yan, Ming Yang, Laura Keller, Xiaohui Zhu, Ying Lian, Qi Liu, Rong Li, Fan Zhai, Yanli Nie, Liying Yan, Gary D Smith, Jie Qiao   +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, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Wen-Lin Chen, Meng-Shan Lee, Wayseen Wang   +6 more
doaj   +1 more source

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, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié   +24 more
doaj   +1 more source