Chromosomal phenotypes and submicroscopic abnormalities

  title={Chromosomal phenotypes and submicroscopic abnormalities},
  author={Koenraad Devriendt and Joris Robert Vermeesch},
  booktitle={Human Genomics},
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 located within these regions can explain the phenotypic similarities among individuals with a specific syndrome. As such, they provide a… CONTINUE READING