Results 1 to 10 of about 51,419 (108)

A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions. [PDF]

Diagnostics (Basel), 2022
Chromoanagenesis is a phenomenon of highly complex rearrangements involving the massive genomic shattering and reconstitution of chromosomes that has had a great impact on cancer biology and congenital anomalies. Complex chromosomal rearrangements (CCRs)
Yen JH, Chu SY, Chen YJ, Su YC, Chien CC, Weng CY, Chen PY.   +6 more
europepmc   +4 more sources

Genetic and functional characterization of inherited complex chromosomal rearrangements in a family with multisystem anomalies. [PDF]

Genet Med Open
Purpose: Complex chromosomal rearrangements (CCRs) are rare structural variants involving 3 or more chromosomal breakpoints. Most de novo-reported CCRs pose challenges for diagnosis and management.
Fang H, Eacker SM, Wu Y, Neufeld-Kaiser W, Laurino M, Keel S, Horwitz MS, Liu YJ.   +7 more
europepmc   +4 more sources

Chromoanagenesis: cataclysms behind complex chromosomal rearrangements. [PDF]

Mol Cytogenet, 2019
Background During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal rearrangements arising during ...
Pellestor F.
europepmc   +2 more sources

Exceptional complex chromosomal rearrangements in three generations. [PDF]

Case Rep Genet, 2015
We report an exceptional complex chromosomal rearrangement (CCR) found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on ...
Kartapradja H, Marzuki NS, Pertile MD, Francis D, Suciati LP, Anggaratri HW, Ambarwati DD, Idris FP, Lesmana H, Trimarsanto H, Paramayuda C, Harahap AR.   +11 more
europepmc   +2 more sources

Complex chromosomal rearrangements induce embryonic chromosomal imbalance and significantly compromise reproductive outcomes. [PDF]

Contracept Reprod Med
This study evaluated Preimplantation Genetic Testing for Structural Rearrangements (PGT‑SR) outcomes in carriers of complex chromosomal rearrangements (CCRs).
Lan Y, Deng X, He S, Luo J, Su J, Li W, Zhou C, Tang X, Wei Y, Huang M, Luo J, Shu J, Wang C, Zhao X, Zhou H, Huang P.   +15 more
europepmc   +2 more sources

Complex Chromosomal Rearrangements in B-Cell Lymphoma: Evidence of Chromoanagenesis? A Case Report. [PDF]

Neoplasia, 2016
Genomic instability is a well-known hallmark of cancer. Recent genome sequencing studies have led to the identification of novel phenomena called chromothripsis and chromoanasynthesis in which complex genomic rearrangements are thought to be derived from
Ortega V, Chaubey A, Mendiola C, Ehman W, Vadlamudi K, Dupont B, Velagaleti G.   +6 more
europepmc   +2 more sources

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements. [PDF]

PLoS Genet, 2019
Complex chromosomal rearrangements (CCRs) are rearrangements involving more than two chromosomes or more than two breakpoints. Whole genome sequencing (WGS) allows for outstanding high resolution characterization on the nucleotide level in unique ...
Eisfeldt J, Pettersson M, Vezzi F, Wincent J, Käller M, Gruselius J, Nilsson D, Syk Lundberg E, Carvalho CMB, Lindstrand A.   +9 more
europepmc   +2 more sources

Massive Amplification at an Unselected Locus Accompanies Complex Chromosomal Rearrangements in Yeast. [PDF]

G3 (Bethesda), 2016
Gene amplification has been observed in different organisms in response to environmental constraints, such as limited nutrients or exposure to a variety of toxic compounds, conferring them with specific phenotypic adaptations via increased expression ...
Thierry A, Khanna V, Dujon B.
europepmc   +2 more sources

Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements

Frontiers in Genetics
IntroductionIndividuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations.
Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang   +9 more
doaj   +3 more sources

Neoantigenic Potential of Complex Chromosomal Rearrangements in Mesothelioma. [PDF]

J Thorac Oncol, 2019
Mansfield AS, Peikert T, Smadbeck JB, Udell JBM, Garcia-Rivera E, Elsbernd L, Erskine CL, Van Keulen VP, Kosari F, Murphy SJ, Ren H, Serla VV, Schaefer Klein JL, Karagouga G, Harris FR, Sosa C, Johnson SH, Nevala W, Markovic SN, Bungum AO, Edell ES, Dong H, Cheville JC, Aubry MC, Jen J, Vasmatzis G.   +25 more
europepmc   +2 more sources