| PubMed ID |
|
26689541 |
Publish Date |
|
2015 Dec |
| Journal |
|
Mol Cytogenet. |
Species |
|
Homo sapiens |
| Disease Type |
|
Congenital abnormality |
Technology |
|
array CGH |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome |
| Authors |
|
Genesio R, Fontana P, Mormile A, Casertano A, Falco M, Conti A, Franzese A, Mozzillo E, Nitsch L, Melis D |
| Affiliation |
|
Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy |
| Chromothripsis Definition |
|
Close-by breakpoints: >10
Copy number states: 2
Fragments random joining: No |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| 26689541_1 |
| |
|
|
| |
Case ID: |
26689541_1 |
| |
Chromosome: | 9 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
array CGH |
| |
Platform: |
NimbleGen CGX-6 PKI Array |
| |
|
