[HTML][HTML] Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11. 23 Williams-Beuren syndrome region
JS Berg, N Brunetti-Pierri, SU Peters, SHL Kang… - Genetics in …, 2007 - Elsevier
Abstract Purpose Williams-Beuren syndrome is among the most well-characterized
microdeletion syndromes, caused by recurrent de novo microdeletions at 7q11. 23 mediated
by nonallelic homologous recombination between low copy repeats flanking this critical
region. However, the clinical phenotype associated with reciprocal microduplication of this
genomic region is less well described. We investigated the molecular, clinical,
neurodevelopmental, and behavioral features of seven patients with dup (7)(q11. 23) …
microdeletion syndromes, caused by recurrent de novo microdeletions at 7q11. 23 mediated
by nonallelic homologous recombination between low copy repeats flanking this critical
region. However, the clinical phenotype associated with reciprocal microduplication of this
genomic region is less well described. We investigated the molecular, clinical,
neurodevelopmental, and behavioral features of seven patients with dup (7)(q11. 23) …