Management of the CNVs in constitutional human genetics using array CGH

In term of resolution, array-CGH technologies have shown a major progression these last years. This technological advance has generated an explosion of data describing newly recognized structural variants in the human genome that could be involved in genetic disorders. This review aims: (i) to clear up the terminology related to the field of these structural variations (CNVs); (ii) to determine the application fields of the array-CGH assays; and (iii) to help deciphering genotype-phenotype associations with CNVs which exist and which remain to be realized in the future.