A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.
Détails
ID Serval
serval:BIB_7C85D3FED007
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.
Périodique
European Journal of Human Genetics
ISSN
1018-4813 (Print)
ISSN-L
1018-4813
Statut éditorial
Publié
Date de publication
2004
Volume
12
Numéro
6
Pages
447-454
Langue
anglais
Notes
Publication types: Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
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.
Mots-clé
Chromosome Aberrations, Chromosome Disorders/diagnosis, Chromosome Disorders/genetics, Chromosome Mapping, Genetic Markers, Humans, In Situ Hybridization, Fluorescence, Metaphase, Nucleic Acid Hybridization/methods, Syndrome
Pubmed
Web of science
Open Access
Oui
Création de la notice
17/09/2011 9:53
Dernière modification de la notice
20/08/2019 14:38