Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development.

ABSTRACT: The Williams-Beuren syndrome (WBS) locus on human chromosome 7q11.23 is flanked by complex chromosome-specific low-copy repeats that mediate recurrent genomic rearrangements of the region. Common genomic rearrangements arise through unequal meiotic recombination and result in complex but distinct behavioural and cognitive phenotypes. Deletion of 7q11.23 results in WBS, which is characterised by mild to moderate intellectual disability or learning difficulties, with relative cognitive strengths in verbal short-term memory and in language and extreme weakness in visuospatial construction, as well as anxiety, attention-deficit hyperactivity disorder and overfriendliness. By contrast, duplication results in severely delayed speech and expressive language, with relative strength in visuospatial

SUBMITTER: Osborne LR 

PROVIDER: S-EPMC2893216 | biostudies-literature | 2007 Jun

REPOSITORIES: biostudies-literature