Results 31 to 40 of about 331 (102)
International Journal of Cancer, Volume 149, Issue 4, Page 754-759, 15 August 2021., 2021 Abstract Chromothripsis is a form of genomic instability that was shown to play a major role in cancer. Beyond cancer, this type of catastrophic event is also involved in germline structural variation, genome mosaicism in somatic tissues, infertility, mental retardation, congenital malformations and reproductive development in plants.
Thorsten Kolb, Aurélie Ernst
wiley +1 more source
Clinical Case Reports, Volume 8, Issue 6, Page 1076-1080, June 2020., 2020 We report a Japanese girl with Coffin‐Lowry syndrome phenotype such as hypertelorism, hypodontia, and tapering fingers and 46,XX,t(X;11)(p22;p15)dn. Whole genome sequencing revealed RPS6KA3 disruption by the translocation, and X‐inactivation analysis indicated preferential inactivation of the normal X chromosome.
Kaori Yamoto +7 more
wiley +1 more source
Case Reports in Genetics, Volume 2020, Issue 1, 2020., 2020 Ring chromosome 20 (r20) is characterized by intellectual impairment, behavioral disorders, and refractory epilepsy. We report a patient presenting nonmosaic ring chromosome 20 followed by duplication and deletion in 20q13.33 with seizures, delayed neuropsychomotor development and language, mild hypotonia, low weight gain, and cognitive deficit ...
Thiago Corrêa +4 more
wiley +1 more source
Proposed model illustrating the steps leading to chromoanagenesis following pollen irradiation.
, 2021 Gamma irradiation of binucleate pollen induces double stranded DNA breaks in the generative cell, and results in chromosome lagging or in bridge formation [12] during the second pollen mitosis. The lagging chromosome is excluded from the main nucleus and
Weier Guo (5625989) +2 more
core +1 more source
Circular DNA intermediates in the generation of large human segmental duplications
BMC Genomics, 2020 Background Duplications of large genomic segments provide genetic diversity in genome evolution. Despite their importance, how these duplications are generated remains uncertain, particularly for distant duplicated genomic segments.
Javier U. Chicote +5 more
doaj +1 more source
Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors
Nature Communications, 2018 Chromothripsis and chromoanasynthesis lead to locally clustered rearrangements affecting one or a few chromosomes, but their impact on cancer development and progression is unclear.
Manasi Ratnaparkhe +23 more
doaj +1 more source
Formation of complex chromosomal rearrangements in cancer cells and significance of these events [PDF]
, 2020 Chromoanagenesis is a catch-all term of recently described catastrophic events that generate complex karyotypes. These events are divided according to the characteristic features and are termed chromothripsis, chromoplexis and chromoanasynthesis ...
Rochlová, Kristina
core
American Journal of Hematology, Volume 100, Issue 6, Page 1029-1048, June 2025.ABSTRACT The latest updates to the classification of hematolymphoid malignancies using the World Health Organization (WHO, 5th ed.) and ICC (International Consensus Classification) criteria highlight the critical need for comprehensive and precise cytogenomic data for diagnosis, prognostication, and treatment.
Rashmi Kanagal‐Shamanna +18 more
wiley +1 more source
The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms [PDF]
, 2020 The rise of pangenomic molecular assays allowed uncovering complex rearrangements named chromoanagenesis that were hypothesized to result from catastrophic shattering events.
Damien Sanlaville +46 more
core +1 more source
Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes
, 2016 Constitutional chromoanagenesis events, which include chromoanasynthesis and chromothripsis and result in highly complex rearrangements, have been reported for only a few individuals.
Speyer, D. +5 more
core +1 more source