| PubMed ID |
|
24143197 |
Publish Date |
|
2013 Oct |
| Journal |
|
PLoS One |
Species |
|
Homo sapiens |
| Disease Type |
|
Cri-du-chat syndrome |
Technology |
|
Array CGH |
| Case Number |
|
2 |
Raw Data |
|
|
| Title |
|
A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis |
| Authors |
|
Heng Gu, Jian-hui Jiang, Jian-ying Li, Ya-nan Zhang, Xing-sheng Dong, Yang-yu Huang, Xinming Son, Xinyan Lu, Zheng Chen |
| Affiliation |
|
Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, PR China |
| Chromothripsis Definition |
|
Close-by breakpoints: >=6
Copy number states: 2
Fragments random joining: NA |
| Download |
|
Study Data File |
| |
| Chromothripsis Cases |
| mother |
| |
|
|
| |
Case ID: |
mother |
| |
Chromosome: | 5 |
| |
Disease type: |
Cri-du-chat syndrome |
| |
Technology: |
Array CGH |
| |
Platform: |
Agilent 4x180K array |
| |
Affected Gene: |
Gene List |
| | | daughter |
| |
|
|
| |
Case ID: |
daughter |
| |
Chromosome: | 5 |
| |
Disease type: |
Cri-du-chat syndrome |
| |
Technology: |
Array CGH |
| |
Platform: |
Agilent 4x180K array |
| |
Affected Gene: |
Gene List |
| |
|
