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
Titre
A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.
Périodique
European Journal of Human Genetics
Auteur⸱e⸱s
Schoumans J., Nielsen K., Jeppesen I., Anderlid B.M., Blennow E., Brøndum-Nielsen K., Nordenskjöld M.
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 10:53
Dernière modification de la notice
20/08/2019 15:38
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