| PubMed ID |
|
28126037 |
Publish Date |
|
2017 Jan |
| Journal |
|
Genome Med |
Species |
|
Homo sapiens |
| Disease Type |
|
Multiple congenital abnormalities and/or mental retardation |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells |
| Authors |
|
Middelkamp S, van Heesch S, Braat AK, de Ligt J, van Iterson M, Simonis M, van Roosmalen MJ, Kelder MJ, Kruisselbrink E, Hochstenbach R, Verbeek NE, Ippel EF, Adolfs Y, Pasterkamp RJ, Kloosterman WP, Kuijk EW, Cuppen E |
| Affiliation |
|
Center for Molecular Medicine and Cancer Genomics Netherlands, Division Biomedical Genetics, University Medical Center Utrecht, Universiteitsweg 100, Utrecht, 3584CG, The Netherlands |
| Chromothripsis Definition |
|
Close-by breakpoints: >13
Copy number states: 2
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| 28085746_patient |
| |
|
|
| |
Case ID: |
28085746_patient |
| |
Chromosome: | 1,3,7,12 |
| |
Disease type: |
Multiple congenital abnormalities and/or mental retardation |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 2500 |
| |
Affected Gene: |
Gene List |
| |
|
