| PubMed ID |
|
25128687 |
Publish Date |
|
2014 Oct |
| Journal |
|
Eur J Med Genet |
Species |
|
Homo sapiens |
| Disease Type |
|
Congenital abnormality |
Technology |
|
SNP Array |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
Constitutional chromoanasynthesis: description of a rare chromosomal event in a patient. |
| Authors |
|
Plaisancie J, Kleinfinger P, Cances C, Bazin A, Julia S, Trost D, Lohmann L, Vigouroux A |
| Affiliation |
|
Service de Genetique Medicale, Hopital Purpan, CHU Toulouse, France |
| Chromothripsis Definition |
|
Close-by breakpoints: >=15
Copy number states: 2
Fragments random joining: NA |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| 25128687_1 |
| |
|
|
| |
Case ID: |
25128687_1 |
| |
Chromosome: | 18 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
SNP Array |
| |
Platform: |
Affymetrix CytoscanHD Array |
| |
Download: |
Copy Number File |
|  |  |
|
