Results 31 to 40 of about 38,783 (308)

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

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

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

Somatic mosaicism reveals clonal distributions of neocortical development

, 2022
The structure of the human neocortex underlies species-specific traits and reflects intricate developmental programs. Here we sought to reconstruct processes that occur during early development by sampling adult human tissues.
Breuss, Martin W., NIMH Brain Somatic Mosaicism Network, Gleeson, Joseph G.   +2 more
core   +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

Application of machine learning to predict aneuploidy and mosaicism in embryos from in vitro fertilization cyclesAJOG Global Reports at a Glance

AJOG Global Reports, 2022
BACKGROUND: The factors associated with embryo aneuploidy have been extensively studied. Mostly maternal age and to a lesser extent male factor and ovarian stimulation have been related to the occurrence of chromosomal alterations in the embryo.
José A. Ortiz, PhD, Ruth Morales, PhD, Belén Lledó, PhD, Juan A. Vicente, PhD, Julio González, PhD, Eva M. García-Hernández, PhD, Alba Cascales, MSc, Jorge Ten, PhD, Andrea Bernabeu, PhD, MD, Rafael Bernabeu, PhD, MD   +9 more
doaj   +1 more source

Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods

Frontiers in Genetics, 2023
Introduction: Chromosome mosaicism and low-grade mosaicism present a challenge for diagnosis in the era of SNP array and NGS. Tetraploidy is a rare numerical chromosomal abnormality characterized by the presence of four copies of each chromosome.
Irina Ioana Iordanescu, Irina Ioana Iordanescu, Anca Teodora Neacsu, Andreea Catana, Andreea Catana, Zina Barabas-CuzmicI, Viorel Suciu, Cristina Dragomir, Diana Elena Voicu, Emilia Severin, Mariela Sanda Militaru, Mariela Sanda Militaru   +11 more
doaj   +1 more source