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Molecular mechanism in the formation of a human ring chromosome 21.

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  • 1. Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
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    • Wong C 1
    (1 author)

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Proceedings of the National Academy of Sciences of the United States of America, 01 Mar 1989, 86(6):1914-1918
https://doi.org/10.1073/pnas.86.6.1914 PMID: 2648387 PMCID: PMC286815

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Abstract 

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 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).

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Proc Natl Acad Sci U S A. 1989 Mar; 86(6): 1914–1918.
PMCID: PMC286815
PMID: 2648387

Molecular mechanism in the formation of a human ring chromosome 21.

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

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 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).

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Selected References

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