| PubMed ID |
|
21349919 |
Publish Date |
|
2011 May |
| Journal |
|
Human Molecular Genetics |
Species |
|
Homo sapiens |
| Disease Type |
|
Congenital abnormality |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline |
| Authors |
|
Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, Bakker SC, Letteboer T, van Nesselrooij B, Hochstenbach R, Poot M, Cuppen E |
| Affiliation |
|
Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands |
| Chromothripsis Definition |
|
Close-by breakpoints: >=2
Copy number states: 1
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| Child |
| |
|
|
| |
Case ID: |
Child |
| |
Chromosome: | 1,4,10 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD V3.5 |
| |
Download: |
Copy Number File Links File |
|  |  |
|
