title: On the spot: very local chromosomal rearrangements.
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.
authors.affiliation: Cognitive Genetics, Department of Medical Genetics, University of Antwerp Prins Boudewijnlaan 43, B-2650 Edegem, Belgium.
authors.forename: Céline
authors.initials: C
authors.lastname: Helsmoortel
authors.forename: Geert
authors.initials: G
authors.lastname: Vandeweyer
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy