期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 79, 期 2, 页码 332-341出版社
CELL PRESS
DOI: 10.1086/506371
关键词
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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.
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