Ontology highlight
ABSTRACT:
SUBMITTER: Emanuel BS
PROVIDER: S-EPMC2810965 | biostudies-literature | 2008 00
REPOSITORIES: biostudies-literature
Developmental disabilities research reviews 20080101 1
Several recurrent, constitutional genomic disorders are present on chromosome 22q. These include the translocations and deletions associated with DiGeorge and velocardiofacial syndrome and the translocations that give rise to the recurrent t(11;22) supernumerary der(22) syndrome (Emanuel syndrome). The rearrangement breakpoints on 22q cluster around the chromosome-specific segmental duplications of proximal 22q11, which are involved in the etiology of these disorders. While the deletions are the ...[more]