Title: Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH
Authors: Veltman, Joris A ×
Jonkers, Yvonne
Nuijten, Inge
Janssen, Irene
van der Vliet, Walter
Huys, Erik
Vermeesch, Joris
Van Buggenhout, Griet
Fryns, Jean-Pierre
Admiraal, Ronald
Terhal, Paulien
Lacombe, Didier
van Kessel, Ad Geurts
Smeets, Dominique
Schoenmakers, Eric F P M
van Ravenswaaij-Arts, Conny M #
Issue Date: May-2003
Series Title: American Journal of Human Genetics vol:72 issue:6 pages:1578-84
Abstract: Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had microscopically visible 18q deletions. The extent and nature of the chromosome-18 deletions were studied in detail by array-based comparative genomic hybridization (arrayCGH). High-resolution chromosome-18 profiles were obtained for all patients, and a critical region of 5 Mb that was deleted in all patients with CAA could be defined on 18q22.3-18q23. Therefore, this region can be considered as a candidate region for aural atresia. The array-based high-resolution copy-number screening enabled a refined cytogenetic diagnosis in 12 patients. Our approach appeared to be applicable to the detection of genetic mosaicisms and, in particular, to a detailed delineation of ring chromosomes. This study clearly demonstrates the power of the arrayCGH technology in high-resolution molecular karyotyping. Deletion and amplification mapping can now be performed at the submicroscopic level and will allow high-throughput definition of genomic regions harboring disease genes.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science