Molecular mechanism in the formation of a human ring chromosome 21

C. Wong, H. H. Kazazian, G. Stetten, W. C. Earnshaw, M. L. Van Keuren, S. E. Antonarakis

Research output: Contribution to journalArticlepeer-review


We have characterized the structural rearrangements of a chromosome 21 that led to the de novo formation of 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 involving two sequential chromosomal rearrangements. (i) Duplication of the centromere and long arm of one maternal chromosome 21 occurred forming a rearranged intermediate. (ii) Chromosomal breaks in both the proximal and telomeric long arm regions on opposite arms of this rearranged chromosome occurred with subsequent reunion producing the r(21).

Original languageEnglish (US)
Pages (from-to)1914-1918
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number6
StatePublished - 1989
Externally publishedYes

ASJC Scopus subject areas

  • General


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