| PubMed ID |
|
25799107 |
Publish Date |
|
2015 Apr |
| Journal |
|
Am J Hum Genet |
Species |
|
Homo sapiens |
| Disease Type |
|
Congenital abnormality |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
3 |
Raw Data |
|
GEO: GSE65454 |
| Title |
|
Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring |
| Authors |
|
de Pagter MS, van Roosmalen MJ, Baas AF, Renkens I, Duran KJ, van Binsbergen E, Tavakoli-Yaraki M, Hochstenbach R, van der Veken LT, Cuppen E, Kloosterman WP |
| Affiliation |
|
Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CG, the Netherlands |
| Chromothripsis Definition |
|
Close-by breakpoints: >=6
Copy number states: 5
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| Mother1 |
| |
|
|
| |
Case ID: |
Mother1 |
| |
Chromosome: | 9,10,14,16 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Affected Gene: |
Gene List |
| |
Download: |
Links File |
| |  | | Mother2 |
| |
|
|
| |
Case ID: |
Mother2 |
| |
Chromosome: | 6,7,9,10,12 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Affected Gene: |
Gene List |
| |
Download: |
Links File |
| |  | | Mother3 |
| |
|
|
| |
Case ID: |
Mother3 |
| |
Chromosome: | 1,3,5 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
AB SOLiD 4 System |
| |
Affected Gene: |
Gene List |
| |
Download: |
Links File |
| |  |
|
