Laboratory methods for the detection of chromosomal abnormalities.

Détails

ID Serval
serval:BIB_D4287D6E5BC7
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Laboratory methods for the detection of chromosomal abnormalities.
Périodique
Methods in Molecular Biology
Auteur(s)
Schoumans J., Ruivenkamp C.
ISSN
1940-6029 (Electronic)
ISSN-L
1064-3745
Statut éditorial
Publié
Date de publication
2010
Volume
628
Pages
53-73
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: ppublish
Résumé
Constitutional chromosomal aberrations are inborn changes with or without phenotypic consequences. Conventional chromosome analysis has been for a long time the method of choice for identification of such abnormalities. However, over the past decades, several molecular cytogenetic techniques have successfully been introduced into the genetic diagnostic laboratories to increase the detection sensitivity and to outline chromosome rearrangements in more detail. Each method has its strength and limitation, therefore often several techniques are needed to detect and unravel the complexity of chromosome abnormalities. This chapter focuses on the most commonly used methods in the diagnostic setting for detection and characterization of constitutional chromosome abnormalities.
Mots-clé
Chromosome Aberrations, Cytogenetic Analysis/methods, DNA Probes, Humans
Pubmed
Création de la notice
17/09/2011 11:10
Dernière modification de la notice
20/08/2019 16:54
Données d'usage