Guidelines for molecular karyotyping in constitutional genetic diagnosis.

Détails

ID Serval
serval:BIB_89CA93AC2878
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Synthèse (review): revue aussi complète que possible des connaissances sur un sujet, rédigée à partir de l'analyse exhaustive des travaux publiés.
Collection
Publications
Titre
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
Périodique
European Journal of Human Genetics
Auteur(s)
Vermeesch J.R., Fiegler H., de Leeuw N., Szuhai K., Schoumans J., Ciccone R., Speleman F., Rauch A., Clayton-Smith J., Van Ravenswaaij C., Sanlaville D., Patsalis P.C., Firth H., Devriendt K., Zuffardi O.
ISSN
1018-4813 (Print)
ISSN-L
1018-4813
Statut éditorial
Publié
Date de publication
2007
Volume
15
Numéro
11
Pages
1105-1114
Langue
anglais
Notes
Publication types: Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't ; Review ; Validation StudiesPublication Status: ppublish
Résumé
Array-based whole genome investigation or molecular karyotyping enables the genome-wide detection of submicroscopic imbalances. Proof-of-principle experiments have demonstrated that molecular karyotyping outperforms conventional karyotyping with regard to detection of chromosomal imbalances. This article identifies areas for which the technology seems matured and areas that require more investigations. Molecular karyotyping should be part of the genetic diagnostic work-up of patients with developmental disorders. For the implementation of the technique for other constitutional indications and in prenatal diagnosis, more research is appropriate. Also, the article aims to provide best practice guidelines for the application of array comparative genomic hybridisation to ensure both technical and clinical quality criteria that will optimise and standardise results and reports in diagnostic laboratories. In short, both the specificity and the sensitivity of the arrays should be evaluated in every laboratory offering the diagnostic test. Internal and external quality control programmes are urgently needed to evaluate and standardise the test results between laboratories.
Mots-clé
Child, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Genomics/ethics, Genomics/methods, Humans, Karyotyping/methods, Nucleic Acid Hybridization/ethics, Nucleic Acid Hybridization/genetics, Practice Guidelines as Topic/standards, Prenatal Diagnosis/ethics, Prenatal Diagnosis/methods
Pubmed
Web of science
Open Access
Oui
Création de la notice
17/09/2011 10:10
Dernière modification de la notice
08/05/2019 21:37
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