| PubMed ID |
|
26312826 |
Publish Date |
|
2016 May |
| Journal |
|
Genet Med |
Species |
|
Homo sapiens |
| Disease Type |
|
Gilles de la Tourette syndrome |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
A germline chromothripsis event stably segregating in 11 individuals through three generations |
| Authors |
|
Bertelsen B, Nazaryan-Petersen L, Sun W, Mehrjouy MM, Xie G, Chen W, Hjermind LE, Taschner PE, Tumer Z |
| Affiliation |
|
Department of Clinical Genetics, Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Glostrup, Denmark |
| Chromothripsis Definition |
|
Close-by breakpoints: 6
Copy number states: 2
Fragments random joining: Yes |
| |
| Chromothripsis Cases |
| II-6 |
| |
|
|
| |
Case ID: |
II-6 |
| |
Chromosome: | 3 |
| |
Disease type: |
Gilles de la Tourette syndrome |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq2000 |
| |
Affected Gene: |
Gene List |
| |
Download: |
Links File |
| |
|
