| PubMed ID |
|
29073611 |
Publish Date |
|
2017 Oct |
| Journal |
|
Cytogenet Genome Res. |
Species |
|
Homo sapiens |
| Disease Type |
|
Recurrent pregnancy loss |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
6 |
Raw Data |
|
|
| Title |
|
Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis |
| Authors |
|
Kato T, Ouchi Y, Inagaki H, Makita Y, Mizuno S, Kajita M, Ikeda T, Takeuchi K, Kurahashi H |
| Affiliation |
|
Division of Molecular Genetics, Institute for Comprehensive Medical Science (ICMS), Fujita Health University, Toyoake, Japan |
| Chromothripsis Definition |
|
Close-by breakpoints: 6
Copy number states: >=2
Fragments random joining: Yes |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| case_1 |
| |
|
|
| |
Case ID: |
case_1 |
| |
Chromosome: | 4,14 |
| |
Disease type: |
Developmental delay |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 1500 |
| |
Download: |
Copy Number File |
|  |  | | case_3 |
| |
|
|
| |
Case ID: |
case_3 |
| |
Chromosome: | 8,10,12 |
| |
Disease type: |
Langer-Giedion syndrome |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 1500 |
| |
Download: |
Copy Number File |
|  |  | | case_4 |
| |
|
|
| |
Case ID: |
case_4 |
| |
Chromosome: | 7 |
| |
Disease type: |
Recurrent pregnancy loss |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 1500 |
| |
Download: |
Copy Number File |
| |  | | case_1 |
| |
|
|
| |
Case ID: |
case_1 |
| |
Chromosome: | 4,14 |
| |
Disease type: |
Developmental delay |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 1500 |
| |
Download: |
Copy Number File |
| | | | case_3 |
| |
|
|
| |
Case ID: |
case_3 |
| |
Chromosome: | 8,10,12 |
| |
Disease type: |
Langer-Giedion syndrome |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 1500 |
| |
Download: |
Copy Number File |
| | | | case_4 |
| |
|
|
| |
Case ID: |
case_4 |
| |
Chromosome: | 7 |
| |
Disease type: |
Recurrent pregnancy loss |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Illumina HiSeq 1500 |
| |
Download: |
Copy Number File |
| | | | top |
|
