| PubMed ID |
|
23860044 |
Publish Date |
|
2013 Jul |
| Journal |
|
Eur J Hum Genet |
Species |
|
Homo sapiens |
| Disease Type |
|
Developmental delay |
Technology |
|
Next Generation Sequencing |
| Case Number |
|
1 |
Raw Data |
|
|
| Title |
|
The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2 |
| Authors |
|
Lusine Nazaryan, Eunice G Stefanou, Claus Hansen, Nadezda Kosyakova, Mads Bak, Freddie H Sharkey, Theodora Mantziou, Anastasios D Papanastasiou, Voula Velissariou, Thomas Liehr, Maria Syrrou, and Niels Tommerup |
| Affiliation |
|
Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, Faculty of Health Science, University of Copenhagen, Copenhagen, Denmark |
| Chromothripsis Definition |
|
Close-by breakpoints: >=6
Copy number states: 2
Fragments random joining: NA |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| 23860044_1 |
| |
|
|
| |
Case ID: |
23860044_1 |
| |
Chromosome: | 2,5,7,16 |
| |
Disease type: |
Developmental delay |
| |
Technology: |
Next Generation Sequencing |
| |
Platform: |
Roche- Nimblegen 12x135K wholegenome array + Illumina Genome Analyzer IIx |
| |
Affected Gene: |
Gene List |
| |
Download: |
Copy Number File Links File |
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|
