Publication
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
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)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Record
Identification
Creation 10.04.2013
Last edited 02.10.2015
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