| PubMed ID |
|
23112751 |
Publish Date |
|
2012 July |
| Journal |
|
Mol Syndromol |
Species |
|
|
| Disease Type |
|
|
Technology |
|
|
| Title |
|
Chromothripsis Challenges the Germline |
| Authors |
|
Martin Poot |
| Affiliation |
|
Department of Medical Genetics, University Medical Center Utrech |
| Chromothripsis Definition |
|
Close-by breakpoints: NA
Copy number states: NA
Fragments random joining: NA |
| Abstract |
|
Complex chromosomal rearrangements (CCRs) con- stitute a rare, difficult to detect and hard to interpret en- tity in clinical cytogenetic diagnosis. CCRs are usually detected by inspection of chromosomal banding pat- terns during karyotyping. The sensitivity of detection is thus limited by the number of microscopically visible bands, typically in the order of 500 to 800. Array-CGH offers a dramatically improved resolution of detection but is limited to CCRs that are associated with copy number variations (CNVs), i.e. losses or gains. Copy neu- tral CCRs, in contrast, escape detection by array-CGH |
|
