Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
Am J Med Genet. 2016 Jan 11
Ronzoni L, Tagliaferri F, Tucci A, Baccarin M, Esposito S, Milani D.
Interstitial deletions of the long arm of chromosome 6 are rare. Clinically, these deletions are considered to be part of a unique microdeletion syndrome associated with intellectual disability and speech impairment, typical dysmorphic features, structural anomalies of the brain, microcephaly, and non-specific multiple organ anomalies. The critical region for the interstitial 6q microdeletion phenotype was mapped to…read more!