| PubMed ID |
|
25043231 |
Publish Date |
|
2015 Mar |
| Journal |
|
Prenat Diagn |
Species |
|
Homo sapiens |
| Disease Type |
|
Congenital abnormality |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing. |
| Authors |
|
Macera MJ, Sobrino A, Levy B, Jobanputra V, Aggarwal V, Mills A, Esteves C, Hanscom C, Pereira S, Pillalamarri V, Ordulu Z, Morton CC, Talkowski M, Warburton D |
| Affiliation |
|
New York Presbyterian Hospital, Columbia University Medical Center, New York, NY, USA |
| Chromothripsis Definition |
|
Close-by breakpoints: >=1
Copy number states: 1
Fragments random joining: NA |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| DGAP259 |
| |
|
|
| |
Case ID: |
DGAP259 |
| |
Chromosome: | 3,5,7,9,18 |
| |
Disease type: |
Congenital abnormality |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Next Generation Sequencing |
| |
Affected Gene: |
Gene List |
| |
|
