Chromosomal phenotypes and submicroscopic abnormalities


The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/duplicated region, abnormal dosage of genes… (More)
DOI: 10.1186/1479-7364-1-2-126


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