Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops—A case report [PDF]
Clinical Case Reports (discontinued), 2019 We report a case of a de novo ring 21 complex chromosomal rearrangement in a fetus presenting with hydrops. Noninvasive prenatal testing (NIPT) failed to detect the imbalance.
Melissa J Macpherson
exaly +8 more sources
Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report [PDF]
Frontiers in Oncology, 2020 We present the genetic profile of kidney giant leiomyosarcoma characterized by sequencing of 409 cancer related genes and chromosomal microarray analysis.
Kirill Anoshkin
exaly +12 more sources
Mitotic microhomology-mediated break-induced replication promotes chromoanasynthesis [PDF]
Nature CommunicationsChromoanasynthesis is a form of complex chromosomal rearrangement (CCR) commonly detected in cancers and congenital disorders, but the mechanism underlying its generation remain elusive. Here we develop a single-molecule long-read DNA sequencing approach
Julia W Grimstead
exaly +8 more sources
Chromoanasynthesis is a common mechanism that leads to ERBB2 amplifications in a cohort of early stage HER2+ breast cancer samples [PDF]
BMC Cancer, 2018 Background HER2 positive (HER2+) breast cancers involve chromosomal structural alterations that act as oncogenic driver events. Methods We interrogated the genomic structure of 18 clinically-defined HER2+ breast tumors through integrated analysis of ...
Sarah H Johnson +2 more
exaly +6 more sources
Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant [PDF]
Molecular Cytogenetics, 2018 Background Complex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal neurodevelopment.
Dimitri Stavropoulos +2 more
exaly +8 more sources
Chromoanasynthesis as a cause of Jacobsen syndrome [PDF]
American Journal of Medical Genetics, Part A, 2020 AbstractJacobsen syndrome (MIM #147791) is a rare multisystem genomic disorder involving craniofacial abnormalities, intellectual disability, other neurodevelopmental defects, and terminal truncation of chromosome 11q, typically deleting ~170 to >340 genes.
David McDermott, Philip Murphy
exaly +5 more sources
Chromoanagenesis in Osteosarcoma [PDF]
BiomoleculesChromoanagenesis is a catastrophic genomic phenomenon involving sudden, extensive rearrangements within one or a few cell cycles. In osteosarcoma, the most prevalent malignant bone tumor in children and adolescents, these events dramatically alter the ...
Nan Wu, Victoria Stinnett, Ying S Zou
exaly +5 more sources
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes [PDF]
Human Mutation, 2018 Small supernumerary marker chromosomes (sSMC) are chromosomal fragments difficult to characterize genomically. Here, we detail a proband with schizoaffective disorder and a mother with bipolar disorder with psychotic features who present with a marker chromosome that segregates with disease.
Zechen Chong, Bo Yuan, Uwe Rudolph
exaly +6 more sources
Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing [PDF]
Genome ResearchSmall supernumerary marker chromosomes (sSMCs) remain a diagnostic challenge despite sequencing advances. As the field shifts toward cytogenomics, there is a need to establish methodologies to resolve these complex genetic variants at base pair resolution, as well as to identify their chromosomal origin and formation mechanism. Here, we apply long-read
Elisabeth Syk Lundberg +2 more
exaly +3 more sources
Case Report: The molecular profile of granular cell astrocytoma predicts aggressive clinical behavior, independent of morphology [PDF]
Pathology and Oncology ResearchBackgroundGranular cell astrocytoma (GCA) is a rare, morphologically distinct variant of IDH-wildtype glioblastoma that can appear deceptively low-grade yet behave aggressively.
Melanie Jensen +16 more
doaj +2 more sources