Results 11 to 20 of about 8,531 (188)

Germline mosaicism in Cornelia de Lange syndrome [PDF]

American Journal of Medical Genetics, Part A, 2012
AbstractCornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects, and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are several affected offspring of apparently unaffected parents.
Laird G Jackson
exaly   +3 more sources

Genetic Linkage Analysis in the Presence of Germline Mosaicism [PDF]

Statistical Applications in Genetics and Molecular Biology, 2011
Germline mosaicism is a genetic condition in which some germ cells of an individual contain a mutation. This condition violates the assumptions underlying classic genetic analysis and may lead to failure of such analysis. In this work we extend the statistical model used for genetic linkage analysis in order to incorporate germline mosaicism.
Ömer Weissbrod, Dan Geiger
exaly   +3 more sources

Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling. [PDF]

PLoS Genetics
De novo mutations (DNMs) have a significant impact on human health, notably through their contribution to developmental disorders. DNMs occur in both paternal and maternal germlines via diverse mechanisms, including parental early embryonic mosaicism, at
François Lecoquierre, Nathalie Drouot, Sophie Coutant, Olivier Quenez, Steeve Fourneaux, Fanny Jumeau, Nathalie Rives, Françoise Charbonnier, Céline Derambure, Anne Boland, Robert Olaso, Vincent Meyer, Jean-François Deleuze, Alice Goldenberg, Anne-Marie Guerrot, Camille Charbonnier, Gaël Nicolas   +16 more
doaj   +2 more sources

Mosaic TP53 pathogenic variant in early-onset breast cancer: a case report [PDF]

Frontiers in Oncology
Li-Fraumeni syndrome (LFS) is a rare hereditary cancer predisposition syndrome caused by pathogenic variants in the TP53 gene. The increasing use of next-generation sequencing (NGS) in germline testing has led to more frequent detection of TP53 variants ...
Luana Greco, Chiara Miggiano, Chiara Miggiano, Arianna Dal Buono, Arianna Dal Buono, Monica Barile, Riccardo Borroni, Riccardo Borroni, Giovambattista Rodà, Armando Santoro, Armando Santoro, Alessandro Repici, Alessandro Repici, Pietro Cavalli, Paolo Bianchi   +14 more
doaj   +2 more sources

Detection of Germline Mosaicism for Robertsonian Translocation 14;14: A Case Report. [PDF]

J Reprod Infertil
Background: Chromosomal structural rearrangements can lead to fertility problems and recurrent miscarriages. The intricate interplay of genetics during human development can lead to subtle anomalies that may affect reproduction. Case Presentation: A 33-year-old woman sought fertility treatment after experiencing six miscarriages.
Gonzalez XV, Mora F, Arshad F, Zhang Y, Babariya D, Wells D, Tozer A.   +6 more
europepmc   +3 more sources

Germline mosaicism in Rett syndrome identified by prenatal diagnosis [PDF]

Clinical Genetics, 2005
Rett syndrome is an X‐linked neurodevelopmental dominant disorder that affects almost exclusively girls. The vast majority of cases are sporadic and are caused by de novo mutations in the MECP2 gene, located in Xq28. Only few familial cases have been reported: in four cases, the mother was an asymptomatic carrier and in other four cases, the germline ...
Alessandra Renieri, Francesca Ariani, Paolo Toti   +2 more
exaly   +5 more sources

Germline mosaicism in X-linked periventricular nodular heterotopia. [PDF]

BMC Neurol, 2014
X-linked periventricular nodular heterotopia is a disorder of neuronal migration resulting from mutations in the filamin A gene. This is an X-linked dominant condition where most affected patients are female and present with seizures. Extra-cerebral features such as cardiac abnormalities and thrombocytopenia have also been documented.
LaPointe MM, Spriggs EL, Mhanni AA.
europepmc   +5 more sources

Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

Frontiers in Genetics, 2021
Germline mosaicism should be suspected when the same de novo mutations are identified in a second pregnancy with asymptomatic parents. Our study aims to find a feasible approach to reveal the existence of germline mosaicism.
Pengzhen Jin, Pengzhen Jin, Xiaoyang Gao, Xiaoyang Gao, Miaomiao Wang, Miaomiao Wang, Yeqing Qian, Yeqing Qian, Jingjin Yang, Jingjin Yang, Yanmei Yang, Yanmei Yang, Yuqing Xu, Yuqing Xu, Yanfei Xu, Yanfei Xu, Minyue Dong, Minyue Dong   +17 more
doaj   +1 more source

A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings? [PDF]

Journal of Genetic Counseling
Camille Verebi
exaly   +2 more sources

Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Frontiers in Genetics, 2021
Familial Rubinstein-Taybi syndrome (RSTS) with recurrent RSTS siblings and apparently unaffected parents is rare; such cases might result from parental somatic and/or germline mosaicism.
Shaobin Lin, Zhiming He, Linhuan Huang, Jialiu Liu, Ting Lei, Jianzhu Wu, Peizhi Huang, Yi Zhou, Yanmin Luo   +8 more
doaj   +1 more source