Title: Benign and pathogenic copy number variation on the short arm of chromosome 4
Authors: Hannes, Femke ×
Vermeesch, Joris #
Issue Date: 2008
Series Title: Cytogenetic and Genome Research vol:123 issue:1-4 pages:88-93
Abstract: The terminal deletion of the short arm of chromosome 4 causing the Wolf-Hirschhorn syndrome is one of the first pathogenic copy number variations (CNVs) ever described. Since this first discovery, a large number of 4p CNVs causing variable phenotypes have been described. Here, we present an overview on those benign and pathogenic visible and submicroscopic 4p imbalances. Interestingly, some CNVs can be, dependent on their copy number state, both benign and pathogenic. In addition, we show how the collection of both phenotypes and genotypes of 4p terminal deletions is leading towards the genetic dissection of the Wolf-Hirschhorn syndrome.
ISSN: 1424-8581
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Laboratory for Cytogenetics and Genome Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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