Ontology highlight
ABSTRACT:
SUBMITTER: Wong C
PROVIDER: S-EPMC286815 | biostudies-other | 1989 Mar
REPOSITORIES: biostudies-other
Wong C C Kazazian H H HH Stetten G G Earnshaw W C WC Van Keuren M L ML Antonarakis S E SE
Proceedings of the National Academy of Sciences of the United States of America 19890301 6
We have characterized the structural rearrangements of a chromosome 21 that led to the de novo formation of a human ring chromosome 21 [r(21)]. Molecular cloning and chromosomal localization of the DNA regions flanking the ring junction provide evidence for a long arm to long arm fusion in formation of the r(21). In addition, the centromere and proximal long arm region of a maternal chromosome 21 are duplicated in the r(21). Therefore, the mechanism in formation of the r(21) was complex involvin ...[more]