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Interstitial telomeric sequences at the junction site of a jumping translocation

Joris Robert Vermeesch, Paul Petit, Franki Speleman UGent, Koen Devriendt, Jean-Pierre Fryns and Peter Marynen (1997) HUMAN GENETICS. 99(6). p.735-737
abstract
The mechanism(s) for the origin of jumping translocations (JTs) are unknown. To assess the possible involvement of telomeric sequences in the jumping process, metaphases of a patient with hydrops fetalis having a JT were analyzed for the presence of interstitial telomeres. Telomere DNA sequences were detected at the junction sites of the donor and the recipient chromosomes. Interstitial telomeric sequences have so far only been detected in JTs involving chromosome 15q in patients with Prader-Willi syndrome. Our finding of interstitial telomeric sequences in a JT with a chromosome different from chromosome arm 15q in a patient without Prader-Willi syndrome implies that telomere sequences may be common to all telomeric JTs. The possible role of telomeric sequences as a cause of the observed chromosomal mosaicism is discussed.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
REARRANGEMENTS, HUMAN FIBROBLASTS
journal title
HUMAN GENETICS
Hum. Genet.
volume
99
issue
6
pages
735 - 737
Web of Science type
Article
ISSN
0340-6717
DOI
10.1007/s004390050440
language
English
UGent publication?
no
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
271178
handle
http://hdl.handle.net/1854/LU-271178
date created
2004-05-24 13:33:00
date last changed
2016-12-19 15:41:42
@article{271178,
  abstract     = {The mechanism(s) for the origin of jumping translocations (JTs) are unknown. To assess the possible involvement of telomeric sequences in the jumping process, metaphases of a patient with hydrops fetalis having a JT were analyzed for the presence of interstitial telomeres. Telomere DNA sequences were detected at the junction sites of the donor and the recipient chromosomes. Interstitial telomeric sequences have so far only been detected in JTs involving chromosome 15q in patients with Prader-Willi syndrome. Our finding of interstitial telomeric sequences in a JT with a chromosome different from chromosome arm 15q in a patient without Prader-Willi syndrome implies that telomere sequences may be common to all telomeric JTs. The possible role of telomeric sequences as a cause of the observed chromosomal mosaicism is discussed.},
  author       = {Vermeesch, Joris Robert and Petit, Paul and Speleman, Franki and Devriendt, Koen and Fryns, Jean-Pierre and Marynen, Peter},
  issn         = {0340-6717},
  journal      = {HUMAN GENETICS},
  keyword      = {REARRANGEMENTS,HUMAN FIBROBLASTS},
  language     = {eng},
  number       = {6},
  pages        = {735--737},
  title        = {Interstitial telomeric sequences at the junction site of a jumping translocation},
  url          = {http://dx.doi.org/10.1007/s004390050440},
  volume       = {99},
  year         = {1997},
}

Chicago
Vermeesch, Joris Robert, Paul Petit, Franki Speleman, Koen Devriendt, Jean-Pierre Fryns, and Peter Marynen. 1997. “Interstitial Telomeric Sequences at the Junction Site of a Jumping Translocation.” Human Genetics 99 (6): 735–737.
APA
Vermeesch, J. R., Petit, P., Speleman, F., Devriendt, K., Fryns, J.-P., & Marynen, P. (1997). Interstitial telomeric sequences at the junction site of a jumping translocation. HUMAN GENETICS, 99(6), 735–737.
Vancouver
1.
Vermeesch JR, Petit P, Speleman F, Devriendt K, Fryns J-P, Marynen P. Interstitial telomeric sequences at the junction site of a jumping translocation. HUMAN GENETICS. 1997;99(6):735–7.
MLA
Vermeesch, Joris Robert, Paul Petit, Franki Speleman, et al. “Interstitial Telomeric Sequences at the Junction Site of a Jumping Translocation.” HUMAN GENETICS 99.6 (1997): 735–737. Print.