Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Abstract

Background: Chromosome 17p13.3 contains extensive repetitive sequences and is a recognised region of genomic instability. Haploinsufficiency of PAFAH1B1 (encoding LIS1) causes either isolated lissencephaly sequence or MillereDieker syndrome, depending on the size of the deletion. More recently, both microdeletions and microduplications mapping to the MillereDieker syndrome telomeric critical region have been identified and associated with distinct but overlapping phenotypes. Methods: Genome-wide microarray screening was performed on 7678 patients referred with unexplained learning difficulties and/or autism, with or without other congenital abnormalities. Eight and five unrelated individuals..