| PubMed ID |
|
26040972 |
Publish Date |
|
2015 Jun |
| Journal |
|
Mol Genet Genomics |
Species |
|
Homo sapiens |
| Disease Type |
|
Congenital abnormality |
Technology |
|
Array CGH |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies. |
| Authors |
|
Gamba BF, Richieri-Costa A, Costa S, Rosenberg C, Ribeiro-Bicudo LA |
| Affiliation |
|
Department of Genetics, Institute of Biosciences, University of Sao Paulo State, Botucatu, SP, Brazil |
| Chromothripsis Definition |
|
Close-by breakpoints: >=12
Copy number states: 3
Fragments random joining: NA |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| 26040972_1 |
| |
|
|
| |
Case ID: |
26040972_1 |
| |
Chromosome: | 1 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Array CGH |
| |
Platform: |
Oxford Gene Technology CytosureTM 4X180K array |
| |
Download: |
Copy Number File |
|  |  |
|
