| PubMed ID |
|
22813740 |
Publish Date |
|
2012 Jun |
| Journal |
|
Cell Rep |
Species |
|
Homo sapiens |
| Disease Type |
|
Congenital abnormality |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
9 |
Raw Data |
|
EBI: ERP001035 |
| Title |
|
Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms |
| Authors |
|
Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, Ballarati L, Vergult S, Giardino D, Hansson K, Ruivenkamp CA, Jager M, van Haeringen A, Ippel EF, Haaf T, Passarge E, Hochstenbach R, Menten B, Larizza L, Guryev V, |
| Affiliation |
|
Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands |
| Chromothripsis Definition |
|
Close-by breakpoints: >=4
Copy number states: 1-3
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| Patient1_child |
| |
|
|
| |
Case ID: |
Patient1_child |
| |
Chromosome: | 1,2,15 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Download: |
Copy Number File Links File |
|  |  | | Patient2_child |
| |
|
|
| |
Case ID: |
Patient2_child |
| |
Chromosome: | 2,8,13 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Download: |
Copy Number File Links File |
|  |  | | Patient3_child |
| |
|
|
| |
Case ID: |
Patient3_child |
| |
Chromosome: | 1,3,7,12 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Download: |
Copy Number File Links File |
|  |  | | Patient4_child |
| |
|
|
| |
Case ID: |
Patient4_child |
| |
Chromosome: | 2,14 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Download: |
Copy Number File Links File |
|  |  | | Patient5_child |
| |
|
|
| |
Case ID: |
Patient5_child |
| |
Chromosome: | 6 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Download: |
Links File |
| |  | | Patient6_child |
| |
|
|
| |
Case ID: |
Patient6_child |
| |
Chromosome: | 4,8,10,20 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Download: |
Copy Number File Links File |
|  |  | | Patient7_mother |
| |
|
|
| |
Case ID: |
Patient7_mother |
| |
Chromosome: | 6,7,9,10,12 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Download: |
Links File |
| |  | | Patient7_child |
| |
|
|
| |
Case ID: |
Patient7_child |
| |
Chromosome: | 7,9,10,12 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Download: |
Copy Number File Links File |
|  |  | | Patient8_child |
| |
|
|
| |
Case ID: |
Patient8_child |
| |
Chromosome: | 5 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Download: |
Copy Number File Links File |
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