| PubMed ID |
|
23915422 |
Publish Date |
|
2013 Aug |
| Journal |
|
Mol Cytogenet |
Species |
|
Homo sapiens |
| Disease Type |
|
Congenital heart defects |
Technology |
|
Array CGH |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
Pure 16q21q22.1 deletion in a complex rearrangement possibly caused by a chromothripsis event |
| Authors |
|
Rita Genesio, Valentina Ronga, Pia Castelluccio, Gennaro Fioretti, Angela Mormile, Graziella Leone, Anna Conti, Maria Luigia Cavaliere, Lucio Nitsch |
| Affiliation |
|
|
| Chromothripsis Definition |
|
Close-by breakpoints: 5
Copy number states: 2
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| 23915422_1 |
| |
|
|
| |
Case ID: |
23915422_1 |
| |
Chromosome: | 12,16 |
| |
Disease type: |
Congenital heart defects |
| |
Technology: |
Array CGH |
| |
Platform: |
4x44 CytoChip array |
| |
Affected Gene: |
Gene List |
| |
|
