Ontology highlight
ABSTRACT:
SUBMITTER: Carvalho CM
PROVIDER: S-EPMC3235474 | biostudies-literature | 2011 Oct
REPOSITORIES: biostudies-literature
Nature genetics 20111002 11
We identified complex genomic rearrangements consisting of intermixed duplications and triplications of genomic segments at the MECP2 and PLP1 loci. These complex rearrangements were characterized by a triplicated segment embedded within a duplication in 11 unrelated subjects. Notably, only two breakpoint junctions were generated during each rearrangement formation. All the complex rearrangement products share a common genomic organization, duplication-inverted triplication-duplication (DUP-TRP/ ...[more]