Constitutional Chromothripsis on Chromosome 2

Constitutional Chromothripsis on Chromosome 2: A Rare Case with ...

Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give rise to a ...

Constitutional Chromothripsis on Chromosome 2: A Rare Case with ...

Constitutional chromothripsis is a rare occurrence, reported in children presenting with a wide range of birth defects. We present a case of a ...

Chromothripsis - an overview | ScienceDirect Topics

The sequencing analysis of breakpoints leading to chromosome rearrangements identified two ... Constitutional chromothripsis usually result in less ...

Comprehensive analysis of chromothripsis in 2,658 human cancers ...

Although chromosome shattering and reassembly has been experimentally demonstrated to generate chromothripsis, template-switching DNA ...

Copy number variations and constitutional chromothripsis (Review)

2. CNVs ... CNVs consist of duplications, deletions and insertions of DNA sequences into an individual's genome that range in size from 50 base ...

Constitutional Chromothripsis Rearrangements Involve Clustered ...

The derivative chromosomes of patient 1 and patient 2 were reconstructed based on the breakpoint junctions identified by the mate-pair.

description of a rare chromosomal event in a patient - ScienceDirect

In fact, a few patients have been reported with constitutional chromothripsis or chromoanasynthesis. Using microarray we identified a very complex chromosomal ...

Chromothripsis as a mechanism driving complex de novo structural ...

... 2–20bp between the two fused chromosomal regions. ... Our results show that complex constitutional rearrangements may arise from a similar cascade of chromosome ...

Chromothripsis in cancer | Nature Reviews Cancer

Genomic rearrangements caused by chromosome instability have a major role in cancer and several syndromic diseases. Analyses of cancer genomes ...

On the Complexity of Mechanisms and Consequences of ... - Frontiers

Chromothripsis is typical for 2 ... chromosomal rearrangements, epigenetics, cancer, benign tumour, chromosome pulverisation, constitutional chromothripsis.

Constitutional chromothripsis of the APC locus as a cause of genetic ...

Chromosomal microarray analysis (CMA). CMA was performed using Infinium CytoSNP-850K BeadChip v1.2 (Illumina) according to the manufacturer's instructions.

Constitutional chromothripsis involving the critical region of 9q21.13 ...

The principle of the chromothripsis process is the occurrence of a local shattering to pieces and rebuilding of chromosomes in a random order.

Chromoanagenesis: cataclysms behind complex chromosomal ...

... chromosomes found in constitutional chromothripsis. Concerning the ... chromothripsis could also arise via telomere attriction [2, 26].

Insight into the Molecular Basis Underlying Chromothripsis - MDPI

The genomic landscape of neuroblastoma therefore reveals two novel molecular defects, chromothripsis ... Constitutional and somatic rearrangement of chromosome ...

Constitutional chromothripsis rearrangements involve clustered ...

... chromosomal rearrangements with more than two breakpoints. The rearrangements displayed unanticipated complexity resembling chromothripsis.

Constitutional Chromothripsis Rearrangements Involve Clustered ...

Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two ...

Heterogeneity of a Constitutional Complex Chromosomal ...

[2015] reported constitutional chromothripsis involving chromosome ... constitutional CCRs involve 2 or more chromosomes [Kloosterman and ...

Criteria for Inference of Chromothripsis in Cancer Genomes: Cell

... 2:1, if genome duplication precedes chromothripsis). Nonetheless, in ... Constitutional chromothripsis rearrangements involve clustered double- ...

Two Patients with Complex Rearrangements Suggestive of ...

Complex chromosomal rearrangement involving chromosome 18 in case 2 ... Constitutional chromothripsis involving chromosome 19 in a child with ...

Insertional translocation involving an additional nonchromothriptic ...

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception? ... 2. Whole genome ...