Title
On the spot : very local chromosomal rearrangements On the spot : very local chromosomal rearrangements
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
London :Faculty of 1000 ,
Subject
Human medicine
Source (journal)
F1000 biology reports. - London, 2009, currens
Volume/pages
4(2012) , 6 p.
ISSN
1757-594X
Article Reference
22
Carrier
E-only publicatie
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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.
E-info
https://repository.uantwerpen.be/docman/iruaauth/37948a/f5e168222d6.pdf
Handle