Search
Search Results
-
Complex Chromosome Rearrangements (CCR)
Indication for chromosome analysis: Phenotype of de Grouchy syndrome II.
-
Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements
Complex chromosome rearrangements, known as chromoanagenesis, are widespread in cancer. Based on large-scale DNA sequencing of human tumours, the...
-
A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report
BackgroundA patient with a myelodysplastic neoplasm exhibited a karyotype with multiple complex chromosome 5 rearrangements. This patient appeared to...
-
FISH-Banding for Characterization of Simple and Complex Chromosomal Rearrangements in Cancer
While interphase and metaphase-directed molecular cytogenetics is a standard technique in routine tumor (cyto)genetics, fluorescence in situ...
-
Identification of complex and cryptic chromosomal rearrangements by optical genome map**
BackgroundOptical genome map** (OGM) has developed into a highly promising method for detecting structural variants (SVs) in human genomes. Complex...
-
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we...
-
Types of Chromosome Mutations
Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied...
-
Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic map** and molecular cytogenetic methodologies
Complex chromosomal rearrangements (CCRs) can result in spontaneous abortions, infertility, and malformations in newborns. In this study, we explored...
-
Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques
BackgroundUsing combined fluorescence in situ hybridization (FISH) and high-throughput whole-genome sequencing (WGS) molecular cytogenetic...
-
Methylation status of genes esca** from X-chromosome inactivation in patients with X-chromosome rearrangements
BackgroundX-chromosome inactivation (XCI) is a mechanism in which one of two X chromosomes in females is randomly inactivated in order to compensate...
-
Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and...
-
Ring Chromosome 5
Human ring chromosome 5 (RC5) is rare, only accounts for approximately 1.3% of the reported human ring chromosomes (RCs). Cri-du-Chat syndrome and...
-
Ring Chromosome 21
Ring chromosome 21 (RC21) is detected using karyoty**, fluorescence in situ hybridization (FISH), and chromosome microarray analysis (CMA) to...
-
Ring Chromosome 18
Although it is ultra-rare, ring chromosome 18 (RC18) is one of the most commonly occurring congenital ring chromosomes (RCs). This is likely due to...
-
Ring Chromosome 14
The exact physiopathology of ring chromosome 14 syndrome (RC14) (OMIM#616606) is currently unknown but it definitely does not rely only on the 14q...
-
Ring Chromosome 6
Ring chromosome 6 (RC6) is a rare constitutional structural abnormality that generally occurs during meiosis or early post-zygotic mitosis. Most of...
-
The Role of Cytogenetic Rearrangements in the Formation of Resistance in Relapse of Acute Lymphoblastic Leukemia
AbstractCytogenetic rearrangements were studied in bone marrow cells of 24 patients with relapse of acute lymphoblastic leukemia (ALL). The authors...
-
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects
Complex congenital chromosome abnormalities are rare but often cause severe symptoms. However, the structures and biological impacts of such...
-
Ring Chromosome 12
The ring chromosome 12 (RC12) is an ultra-rare chromosomal disorder with only ten patients reported in the literature. Patients with RC12 often...
-
Ring Chromosome X
Cases with ring chromosome X (RCX) were detected using karyoty**, fluorescence in situ hybridization (FISH), Southern blotting, PCR analysis, and...