| PubMed ID |
|
26871565 |
Publish Date |
|
2016 Apr |
| Journal |
|
Clin Dysmorphol |
Species |
|
Homo sapiens |
| Disease Type |
|
Developmental delay and dysmorphism |
Technology |
|
array CGH |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
A rare example of germ-line chromothripsis resulting in large genomic imbalance |
| Authors |
|
Anderson SE, Kamath A, Pilz DT, Morgan SM |
| Affiliation |
|
Laboratory Genetics, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK |
| Chromothripsis Definition |
|
Close-by breakpoints: 18
Copy number states: 2
Fragments random joining: No |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| 26871565_1 |
| |
|
|
| |
Case ID: |
26871565_1 |
| |
Chromosome: | X |
| |
Disease type: |
Developmental delay and dysmorphism |
| |
Technology: |
array CGH |
| |
Platform: |
Illumina CytoChip ISCA 8x60K (v2.0) platforms |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File |
|  |  |
|
