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- Title
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.
- Authors
Schoumans, Jacqueline; Nielsen, Kate; Jeppesen, Iben; Anderlid, Britt-Marie; Blennow, Elisabeth; Brøndum-Nielsen, Karen; Nordenskjöld, Magnus
- Abstract
An increasing body of evidence indicates that submicroscopic gene dose alterations may cause mental impairment and malformations. During the last decade, comparative genomic hybridization (CGH) has become a useful tool in the detection and mapping of chromosome aberrations. Modifications of CGH with increased resolution down to 3-5?Mb have been reported and CGH is now offered as a diagnostic procedure in the evaluation of patients with idiopathic mental retardation (MR). In order to increase the resolution, we modified the CGH protocol using freshly prepared high-quality metaphase slides and chemical labeling, and tested the method on a set of patients with well-defined submicroscopic chromosome abnormalities with confirmed size 1.3-20.5?Mb. Subsequently, a completely blinded test was performed to compare the performance of the chemical labeling CGH to the commercially available HR-CGH. Using the two different CGH methods, we were able to detect chromosome imbalances down to 2-3?Mb approximately. The HR-CGH method detected all aberrations >6?Mb and a few smaller, while the modified CGH method was able to detect all but three aberrations >1.8?Mb. The modified CGH method was superior in the detection of terminal imbalances, while the HR-CGH software was more successful in the detection of imbalances located very close to the centromeric regions. In conclusion, the resolution of metaphase CGH may be as high as 2-3?Mb but is most likely depending on the chromosomal region involved, a clear limitation when used as a screening method for chromosome aberrations in patients with idiopathic MR.European Journal of Human Genetics (2004) 12, 447-454. doi:10.1038/sj.ejhg.5201175 Published online 17 March 2004
- Subjects
INTELLECTUAL disabilities; DEVELOPMENTAL disabilities; CHROMOSOME abnormalities; GENETIC mutation; HUMAN biology; HUMAN genetics; GENETICS
- Publication
European Journal of Human Genetics, 2004, Vol 12, Issue 6, p447
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/sj.ejhg.5201175