title: Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes.
abstract: Genome-wide array comparative genomic hybridization screening is uncovering pathogenic submicroscopic chromosomal imbalances in patients with developmental disorders. In those patients, imbalances appear now to be scattered across the whole genome, and most patients carry different chromosomal anomalies. Screening patients with developmental disorders can be considered a forward functional genome screen. The imbalances pinpoint the location of genes that are involved in human development. Because most imbalances encompass regions harboring multiple genes, the challenge is to (1) identify those genes responsible for the specific phenotype and (2) disentangle the role of the different genes located in an imbalanced region. In this review, we discuss novel tools and relevant databases that have recently been developed to aid this gene discovery process. Identification of the functional relevance of genes will not only deepen our understanding of human development but will, in addition, aid in the data interpretation and improve genetic counseling.
authors.affiliation: Department of Electrotechnical Engineering, Katholieke Universiteit Leuven, Leuven, Belgium. Steven.VanVooren@esat.kuleuven.be
authors.forename: Steven
authors.initials: S
authors.lastname: Van Vooren
authors.forename: Bert
authors.initials: B
authors.lastname: Coessens
authors.forename: Bart
authors.initials: B
authors.lastname: De Moor
authors.forename: Yves
authors.initials: Y
authors.lastname: Moreau
authors.forename: Joris R
authors.initials: JR
authors.lastname: Vermeesch
mesh_terms: D002869:Chromosome Aberrations; D019295:Computational Biology / Q000379:methods; D020732:Cytogenetic Analysis; D030541:Databases, Genetic; D015894:Genome, Human; D006801:Humans; D009693:Nucleic Acid Hybridization / Q000379:methods*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D013577:Syndrome