|
Title
|
|
|
|
On the spot : very local chromosomal rearrangements
|
|
|
Author
|
|
|
|
|
|
|
Abstract
|
|
|
|
| Over the last decade, the detection of chromosomal abnormalities has shifted from conventional karyotyping under a light microscope to molecular detection using microarrays. The latter technology identified copy number variation as a major source of variation in the human genome; moreover, copy number variants were found responsible for 10-20% of cases of intellectual disability. Recent technological advances in microarray technology have also enabled the detection of very small local chromosomal rearrangements, sometimes affecting the function of only a single gene. Here, we illustrate how high resolution microarray analysis has led to increased insights into the contribution of specific genes in disease. |
|
|
|
Language
|
|
|
|
English
|
|
|
Source (journal)
|
|
|
|
F1000 biology reports. - London, 2009, currens
|
|
|
Publication
|
|
|
|
London
:
Faculty of 1000
,
2012
|
|
|
ISSN
|
|
|
|
1757-594X
|
|
|
DOI
|
|
|
|
10.3410/B4-22
|
|
|
Volume/pages
|
|
|
|
4
(2012)
, 6 p.
|
|
|
Article Reference
|
|
|
|
22
|
|
|
Medium
|
|
|
|
E-only publicatie
|
|
|
Full text (Publisher's DOI)
|
|
|
|
|
|
|
Full text (publisher's version - intranet only)
|
|
|
|
|
|