Merla G Howald C Henrichsen CN Lyle R Wyss C Zabot MT Antonarakis SE Reymond A 2006 Genomic imbalance is a common cause of phenotypic abnormalities. We measured the relative expression level of genes that map within the microdeletion that causes Williams-Beuren syndrome and within its flanking regions. We found, unexpectedly, that not only hemizygous genes but also normal-copy neighboring genes show decreased relative levels of expression. Our results suggest that not only the aneuploid genes but also the flanking genes that map several megabases away from a genomic rearrangement should be considered possible contributors to the phenotypic variation in genomic disorders. application/pdf https://sonar.ch/global/documents/897 eng info:eu-repo/semantics/altIdentifier/doi/10.1086/506371 info:eu-repo/semantics/altIdentifier/pmid/16826523 info:eu-repo/semantics/openAccess American journal of human genetics. - 2006 Cell Line, Transformed Cells, Cultured Chromosomes, Human, Pair 7 Gene Deletion Gene Expression Humans Williams Syndrome Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. http://purl.org/coar/resource_type/c_6501