Phenotypic Characterization of Chromosome 22 Rearrangement

Chromosomal rearrangement can lead to altered gene dosage, resulting in genomic disorder. Most of chromo- somal rearrangements are associated with congenital malformations and mental retardation. Therefore genomic disorders have a large impact on hu- man health. The present study focus on chromosome 22 as a model for chromosomal rearrangement, becau- se of its susceptibility to genomic inst- ability. We aim to describe and clarify the associated phenotypic changes of patients with chromosome 22 re- arrangement using data of our patien- ts and others of literature. We attempt to identify the role of various 22q regions in human development and phenotype.