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. 2012:4:22.
doi: 10.3410/B4-22. Epub 2012 Nov 1.

On the spot: very local chromosomal rearrangements

Céline Helsmoortel  1 , Geert Vandeweyer, R Frank Kooy
Affiliations

On the spot: very local chromosomal rearrangements

Céline Helsmoortel et al. F1000 Biol Rep. 2012.

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.

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Figures

Figure 1.
Figure 1.. The added value of a very small copy number variation in genetic discovery
Schematic representation of the added value of a very small copy number variant (red) in the genetic dissection of recurrent and non-recurrent microdeletion and microduplication syndromes (A and B) in relation to previously reported copy number variants (blue), and for causative gene identification in monogenic diseases (C).
See this image and copyright information in PMC

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