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. 2004 Feb 23;90(4):860-5.
doi: 10.1038/sj.bjc.6601588.

Identification and characterisation of constitutional chromosome abnormalities using arrays of bacterial artificial chromosomes

J K Cowell  1 , Y D Wang, K Head, J Conroy, D McQuaid, N J Nowak
Affiliations

Identification and characterisation of constitutional chromosome abnormalities using arrays of bacterial artificial chromosomes

J K Cowell et al. Br J Cancer. .

Abstract

Constitutional chromosome deletions and duplications frequently predispose to the development of a wide variety of cancers. We have developed a microarray of 6000 bacterial artificial chromosomes for array-based comparative genomic hybridisation, which provides an average resolution of 750 kb across the human genome. Using these arrays, subtle gains and losses of chromosome regions can be detected in constitutional cells, following a single overnight hybridisation. In this report, we demonstrate the efficiency of this procedure in identifying constitutional deletions and duplications associated with predisposition to retinoblastoma, Wilms tumour and Beckwith-Wiedemann syndrome.

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Figures

Figure 1
Figure 1
CGHa profile of constitutional DNA from patient GOS 115. The individual BACs for all chromosomes show a test/control ratio about a mean of 0 (no change, log scale), with the exception of the 13q14 region where the ratio is −0.5, indicating the presence of a heterozygous deletion (see text). The sex chromosome mismatch for this male patient was an XX control, which demonstrates a ratio or −0.5, which is expected in this experiment for a hemizygous deletion.
Figure 2
Figure 2
CGHa profile for patients with retinoblastoma. The deletions (arrows) in 13q14 for GOS 115 and 13q14–22 in GOS 191 can be clearly seen with a ratio of approximately –0.5. Patient GOS 203 shows a normal profile for chromosome 13 with all BACs, clustering around a mean of 1 (linear scale).
Figure 3
Figure 3
CGHa profiles for patients reportedly with 13q- syndrome. In GOS 71, the deletion (arrows) is seen in the 13q12–14 region, whereas, in patient GOS 107, the deletion (arrows) lies more distal in the 13q31–33 region.
Figure 4
Figure 4
CGHa profiles for patients with constitutional chromosome abnormalities involving chromosome 11. Patient GOS 157 carries a deletion (arrows) in the 11p13 region and patient GOS 637 shows a triplication (arrows) in the 11p15 region.
See this image and copyright information in PMC

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